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You waited weeks for your child's genetic test results. When they finally arrived, the report did not say the variant was disease causing. It did not say it was harmless, either. If your child's genetic testing identified an SCN2A variant of uncertain significance, you are not alone in feeling stuck between a finding and an answer. This guide explains what a VUS means, how variants get reclassified over time, and what your family can do right now to help move the science forward. For background on the gene itself, start with this overview on understanding the SCN2A gene.
A variant of uncertain significance (VUS), sometimes called a variant of unknown significance, is a genetic change for which the available evidence is insufficient or conflicting, so the variant cannot currently be classified as disease-causing or harmless. According to the National Human Genome Research Institute (NHGRI), a VUS occurs when “analysis of a patient’s genome identifies a variant, but it is unclear whether that variant is actually connected to a health condition.” This does not mean the result is meaningless. It means scientists either do not have enough data to reach a conclusion or have data that points in different directions. Many newly discovered rare variants are initially classified as VUS because too little information is available to determine their significance. For families, a VUS result can be deeply frustrating. You may have pursued genetic testing hoping for clarity about your child’s condition, only to receive a finding that raises more questions than it answers. It is important to understand that this uncertainty reflects the current state of scientific knowledge, not a flaw in the testing process. As research advances and more data is collected, the picture becomes clearer.
Clinical laboratories commonly use a standardized framework developed by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) to classify genetic variants in relation to a particular genetic condition. This framework places variants into one of five categories:
- Pathogenic: strong evidence the variant causes disease
- Likely pathogenic: high probability the variant causes disease Variant of uncertain significance
- (VUS): insufficient or conflicting evidence to classify
- Likely benign: high probability the variant does not cause disease
- Benign: strong evidence the variant does not cause disease
This five-tier system helps clinicians and genetic counselors communicate findings consistently. However, a classification is not necessarily fixed — the same variant can be interpreted differently depending on the available evidence and the date of evaluation, and classifications may be updated as new data emerges. A VUS is not a diagnosis. According to ACMG/AMP guidelines, “a VUS should not be used in clinical decision-making.” Patient management should rely on your child’s symptoms, clinical presentation, and family medical history.
Variants stay classified as uncertain for two main reasons: a lack of data or conflicting data. Many genetic changes are extremely rare, appearing in only a handful of people worldwide. As the NHGRI explains, “these variants are so rare in the population that little information is available about them.” In other cases, the available evidence points in different directions — some data suggesting the variant may cause disease, other data suggesting it may be harmless. Without a clear answer in either direction, the variant remains uncertain. This challenge is compounded by an equity gap in genomic research. More genomic data currently exists for people of European ancestry, which means individuals from underrepresented populations are statistically more likely to receive a VUS result. A 2024 study of a pediatric epilepsy cohort found that individuals of ancestries historically underrepresented in genetics research were significantly more likely to receive uncertain genetic results than those of majority ancestral groups. Broader and more diverse population sequencing is one of the key steps needed to reduce the number of variants that remain uncertain.
A VUS classification may be updated as new evidence becomes available, but reclassification is not guaranteed and may take years. Many variants remain uncertain indefinitely with current knowledge. In a retrospective study of a pediatric epilepsy genetic testing cohort, researchers found that among VUS results that were reclassified during follow-up, 81% were downgraded to benign or likely benign, while 19% were upgraded to pathogenic or likely pathogenic. The study did not find a significant difference between the DEE and non-DEE groups in the timing or direction of reclassification. These findings came from one specific cohort and may not generalize to every laboratory, disorder, or variant. The researchers recommend “periodic genomic test reinterpretation” to capture any updates. Ongoing SCN2A research initiatives are helping to advance the evidence base that may support future reclassification.
Two major public databases contribute to the reclassification process. ClinVar is a public archive maintained by the National Institutes of Health that collects variant interpretations submitted by clinical laboratories, researchers, and expert panels worldwide. Because different groups may interpret the same variant differently, ClinVar sometimes contains conflicting entries — making it an important but imperfect resource that requires expert evaluation. gnomAD (Genome Aggregation Database) provides population allele-frequency data that helps scientists determine how common a variant is in the general population. If a variant appears at a frequency too high to be compatible with the proposed rare disorder, that can support a benign interpretation — but frequency alone is not enough and must be weighed alongside the specific condition, its inheritance pattern, and other factors. Rarity also does not confirm that a variant is disease-causing, since most rare variants are not. Together, these growing databases provide important data that laboratories consider when evaluating whether a variant’s classification should be updated.
Functional studies examine how a variant may affect protein production, RNA splicing, sodium channel behavior, or cellular function. For the SCN2A gene, which provides instructions for building a sodium channel in the brain, researchers can measure whether a variant changes how that channel works. Results from well-validated assays can contribute important evidence toward classification, but they must be interpreted alongside population data, clinical information, computational predictions, inheritance patterns, and segregation data, they do not automatically resolve a VUS on their own. The quality of functional evidence also depends on whether the assay has been appropriately validated and whether it reflects the relevant biological mechanism. Multiple research groups are actively conducting functional characterization of SCN2A variants, and the Simons Foundation Autism Research Initiative (SFARI) has funded high-throughput projects designed to systematically test large numbers of SCN2A variants.
Family segregation studies look at whether a variant tracks with symptoms across generations. If a variant appears in multiple affected family members but not in unaffected relatives, that provides evidence it may be disease-causing. If the variant appears in healthy family members, it may suggest the change is benign, though this is not definitive, incomplete penetrance, variable expressivity, parental mosaicism, and incomplete clinical evaluation mean that some people can carry a disease-causing variant without showing obvious symptoms. For SCN2A, determining whether a variant occurred de novo — meaning it arose in the child rather than being inherited from either parent — can provide important evidence toward classification. However, a de novo finding does not by itself prove that a variant is pathogenic or predict the severity of a child’s condition. Your geneticist may recommend testing both parents and potentially other family members to gather this type of evidence, which is weighed alongside other data in the classification process.
Published studies have demonstrated that SCN2A variants exhibit diverse and complex functional properties, and new research continues to reveal how individual variants affect sodium channel behavior in different ways. Research into alternative splicing has added another layer of complexity, and developmentally regulated SCN2A splice isoforms can alter the measured functional effects of some variants, which means variant interpretation may need to account for developmental context. Studies focused on variant reclassification in genetic neurodevelopmental conditions have shown measurable improvement over time as research methods advance and data accumulates. For families with a VUS result on the SCN2A gene, this is encouraging context, though reclassification for any individual variant is not guaranteed. To learn more about the SCN2A Foundation and its role in supporting this research, visit the About Us page. Maintaining contact with the ordering clinician and laboratory positions your family to learn if and when your child’s variant is reclassified, which could have meaningful implications for care. As the article discusses below, laboratory recontact and notification practices vary, so families should confirm that current contact information is on file and ask how updates are communicated.
A VUS can feel like a dead end, but there are concrete steps you can take right now.
Has this specific variant been seen in other patients, and if so, what were their symptoms?
Would testing other family members help clarify the variant’s significance?
How often does your lab reanalyze previous results for reclassification?
Are there any functional studies underway for this variant?
Can you set up a system to notify us if the classification changes?
These questions put you in an active role and help your clinical team prioritize follow-up. Laboratory policies regarding reinterpretation, notification timing, and fees vary. Families should ask the ordering clinician or laboratory whether reinterpretation is available, who is responsible for recontact if a classification changes, and whether current contact information is on file.
One of the most powerful things a family can do is contribute data to research. The SCN2A WorldMap Registry is a privacy-first global registry that creates a consented, geolocated cohort of families affected by SCN2A-related disorders. It makes the SCN2A community visible to pharmaceutical companies, regulators, and research funders. The WorldMap can help identify families with the same variant, support community connections, and facilitate future research participation. While registration does not itself produce the evidence needed for formal clinical reclassification — which requires appropriately collected and validated data evaluated through clinical variant-interpretation processes — building a visible, connected cohort is an essential step toward enabling the research that generates that evidence.
This is one of the most important questions families face. The clinical guidance is clear: a VUS should not be used as the basis for treatment decisions. Medical management should be guided by your child’s specific symptoms, clinical presentation, and family history rather than by an uncertain genetic finding. That said, a VUS does not mean your child’s symptoms should be ignored. Your child’s doctors can and should provide treatment based on the symptoms they observe, regardless of whether the genetic variant has been definitively classified. Work closely with your medical team to ensure that your child receives appropriate care based on their clinical picture. If the variant is later reclassified, that new information can then inform adjustments to the treatment plan. Ask your geneticist about periodic reanalysis so that any reclassification is captured in a timely manner. You can join the fight for answers by connecting with the Foundation’s advocacy efforts.
Every family that shares their genetic and clinical data brings the scientific community one step closer to resolving uncertain variants. The limbo of a VUS result is real, and reclassification is not guaranteed, but databases are growing, functional studies are advancing, and the tools for variant interpretation are improving. Your family’s participation in registries, clinical studies, and genetic retesting programs is not passive. It is the engine that drives discovery. Every family navigating an SCN2A finding, including those with a variant of uncertain significance, where it is not yet known whether the variant is disease-causing or benign and further evaluation is still needed — deserves answers, community, and hope. The work to find them depends on your support. Please consider making a donation to help fund the research and resources that move us all forward.
This content is provided for educational and informational purposes only and does not constitute medical advice. The information on this page is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
National Human Genome Research Institute (NHGRI). Variant of Uncertain Significance (VUS). https://www.genome.gov/genetics-glossary/Variant-of-Uncertain-Significance-VUS
Blueprint Genetics. VUS: The Most Maligned Result in Genetic Testing. https://www.blueprintgenetics.com/resources/vus-the-most-maligned-result-in-genetic-testing/
Chourasia, N., et al. (2024). A Retrospective Review of Reclassification of Variants of Uncertain Significance in a Pediatric Epilepsy Cohort Undergoing Genetic Panel Testing. Pediatric Neurology, 161, 101–107. https://www.sciencedirect.com/science/article/abs/pii/S0887899424003345
Corradi, A., et al. (2026). Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy. Neurology Genetics, 12(1), e200344. https://www.neurology.org/doi/10.1212/NXG.0000000000200344
Thompson, C.H., et al. (2023). Epilepsy-Associated SCN2A (NaV1.2) Variants Exhibit Diverse and Complex Functional Properties. Journal of General Physiology, 155(10), e202313375. https://rupress.org/jgp/article/155/10/e202313375/276183/Epilepsy-associated-SCN2A-NaV1-2-variants-exhibit
Thompson, C.H., et al. (2020). Alternative Splicing Potentiates Dysfunction of Early-Onset Epileptic Encephalopathy SCN2A Variants. Journal of General Physiology, 152(3), e201912442. https://rupress.org/jgp/article/152/3/e201912442/133672/Alternative-splicing-potentiates-dysfunction-of
Simons Foundation Autism Research Initiative (SFARI). High-Throughput Functional Annotation of Human SCN2A Variants. https://www.sfari.org/funded-project/high-throughput-functional-annotation-of-human-scn2a-variants/
Crawford, K., et al. (2021). Computational Analysis of 10,860 Phenotypic Annotations in Individuals with SCN2A-Related Disorders. Genetics in Medicine, 23(10), 1940–1950. https://www.nature.com/articles/s41436-021-01120-1
Kowanda, M., et al. (2024). Improvement of Variant Reclassification in Genetic Neurodevelopmental Conditions. Genetics in Medicine Open, 2, 101845. https://www.gimopen.org/article/S2949-7744(24)00991-9/fulltext
Richards, S., et al. (2015). Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the ACMG and AMP. Genetics in Medicine, 17(5), 405–424. https://www.acmg.net/docs/standards_guidelines_for_the_interpretation_of_sequence_variants.pdf
Martin, B.E., et al. (2024). Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort. Journal of Medical Genetics. https://pubmed.ncbi.nlm.nih.gov/38453479/
Mighton, C., et al. (2026). Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. https://www.sciencedirect.com/science/article/pii/S1098360026009019
SCN2A WorldMap Registry. SCN2A Foundation. https://worldmap.scn2afoundation.org/
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You waited weeks for your child's genetic test results. When they finally arrived, the report did not say the variant was disease causing. It did not say it was harmless, either. If your child's genetic testing identified an SCN2A variant of uncertain significance, you are not alone in feeling stuck between a finding and an answer. This guide explains what a VUS means, how variants get reclassified over time, and what your family can do right now to help move the science forward. For background on the gene itself, start with this overview on understanding the SCN2A gene.
A variant of uncertain significance (VUS), sometimes called a variant of unknown significance, is a genetic change for which the available evidence is insufficient or conflicting, so the variant cannot currently be classified as disease-causing or harmless. According to the National Human Genome Research Institute (NHGRI), a VUS occurs when “analysis of a patient’s genome identifies a variant, but it is unclear whether that variant is actually connected to a health condition.” This does not mean the result is meaningless. It means scientists either do not have enough data to reach a conclusion or have data that points in different directions. Many newly discovered rare variants are initially classified as VUS because too little information is available to determine their significance. For families, a VUS result can be deeply frustrating. You may have pursued genetic testing hoping for clarity about your child’s condition, only to receive a finding that raises more questions than it answers. It is important to understand that this uncertainty reflects the current state of scientific knowledge, not a flaw in the testing process. As research advances and more data is collected, the picture becomes clearer.
Clinical laboratories commonly use a standardized framework developed by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) to classify genetic variants in relation to a particular genetic condition. This framework places variants into one of five categories:
- Pathogenic: strong evidence the variant causes disease
- Likely pathogenic: high probability the variant causes disease Variant of uncertain significance
- (VUS): insufficient or conflicting evidence to classify
- Likely benign: high probability the variant does not cause disease
- Benign: strong evidence the variant does not cause disease
This five-tier system helps clinicians and genetic counselors communicate findings consistently. However, a classification is not necessarily fixed — the same variant can be interpreted differently depending on the available evidence and the date of evaluation, and classifications may be updated as new data emerges. A VUS is not a diagnosis. According to ACMG/AMP guidelines, “a VUS should not be used in clinical decision-making.” Patient management should rely on your child’s symptoms, clinical presentation, and family medical history.
Variants stay classified as uncertain for two main reasons: a lack of data or conflicting data. Many genetic changes are extremely rare, appearing in only a handful of people worldwide. As the NHGRI explains, “these variants are so rare in the population that little information is available about them.” In other cases, the available evidence points in different directions — some data suggesting the variant may cause disease, other data suggesting it may be harmless. Without a clear answer in either direction, the variant remains uncertain. This challenge is compounded by an equity gap in genomic research. More genomic data currently exists for people of European ancestry, which means individuals from underrepresented populations are statistically more likely to receive a VUS result. A 2024 study of a pediatric epilepsy cohort found that individuals of ancestries historically underrepresented in genetics research were significantly more likely to receive uncertain genetic results than those of majority ancestral groups. Broader and more diverse population sequencing is one of the key steps needed to reduce the number of variants that remain uncertain.
A VUS classification may be updated as new evidence becomes available, but reclassification is not guaranteed and may take years. Many variants remain uncertain indefinitely with current knowledge. In a retrospective study of a pediatric epilepsy genetic testing cohort, researchers found that among VUS results that were reclassified during follow-up, 81% were downgraded to benign or likely benign, while 19% were upgraded to pathogenic or likely pathogenic. The study did not find a significant difference between the DEE and non-DEE groups in the timing or direction of reclassification. These findings came from one specific cohort and may not generalize to every laboratory, disorder, or variant. The researchers recommend “periodic genomic test reinterpretation” to capture any updates. Ongoing SCN2A research initiatives are helping to advance the evidence base that may support future reclassification.
Two major public databases contribute to the reclassification process. ClinVar is a public archive maintained by the National Institutes of Health that collects variant interpretations submitted by clinical laboratories, researchers, and expert panels worldwide. Because different groups may interpret the same variant differently, ClinVar sometimes contains conflicting entries — making it an important but imperfect resource that requires expert evaluation. gnomAD (Genome Aggregation Database) provides population allele-frequency data that helps scientists determine how common a variant is in the general population. If a variant appears at a frequency too high to be compatible with the proposed rare disorder, that can support a benign interpretation — but frequency alone is not enough and must be weighed alongside the specific condition, its inheritance pattern, and other factors. Rarity also does not confirm that a variant is disease-causing, since most rare variants are not. Together, these growing databases provide important data that laboratories consider when evaluating whether a variant’s classification should be updated.
Functional studies examine how a variant may affect protein production, RNA splicing, sodium channel behavior, or cellular function. For the SCN2A gene, which provides instructions for building a sodium channel in the brain, researchers can measure whether a variant changes how that channel works. Results from well-validated assays can contribute important evidence toward classification, but they must be interpreted alongside population data, clinical information, computational predictions, inheritance patterns, and segregation data, they do not automatically resolve a VUS on their own. The quality of functional evidence also depends on whether the assay has been appropriately validated and whether it reflects the relevant biological mechanism. Multiple research groups are actively conducting functional characterization of SCN2A variants, and the Simons Foundation Autism Research Initiative (SFARI) has funded high-throughput projects designed to systematically test large numbers of SCN2A variants.
Family segregation studies look at whether a variant tracks with symptoms across generations. If a variant appears in multiple affected family members but not in unaffected relatives, that provides evidence it may be disease-causing. If the variant appears in healthy family members, it may suggest the change is benign, though this is not definitive, incomplete penetrance, variable expressivity, parental mosaicism, and incomplete clinical evaluation mean that some people can carry a disease-causing variant without showing obvious symptoms. For SCN2A, determining whether a variant occurred de novo — meaning it arose in the child rather than being inherited from either parent — can provide important evidence toward classification. However, a de novo finding does not by itself prove that a variant is pathogenic or predict the severity of a child’s condition. Your geneticist may recommend testing both parents and potentially other family members to gather this type of evidence, which is weighed alongside other data in the classification process.
Published studies have demonstrated that SCN2A variants exhibit diverse and complex functional properties, and new research continues to reveal how individual variants affect sodium channel behavior in different ways. Research into alternative splicing has added another layer of complexity, and developmentally regulated SCN2A splice isoforms can alter the measured functional effects of some variants, which means variant interpretation may need to account for developmental context. Studies focused on variant reclassification in genetic neurodevelopmental conditions have shown measurable improvement over time as research methods advance and data accumulates. For families with a VUS result on the SCN2A gene, this is encouraging context, though reclassification for any individual variant is not guaranteed. To learn more about the SCN2A Foundation and its role in supporting this research, visit the About Us page. Maintaining contact with the ordering clinician and laboratory positions your family to learn if and when your child’s variant is reclassified, which could have meaningful implications for care. As the article discusses below, laboratory recontact and notification practices vary, so families should confirm that current contact information is on file and ask how updates are communicated.
A VUS can feel like a dead end, but there are concrete steps you can take right now.
Has this specific variant been seen in other patients, and if so, what were their symptoms?
Would testing other family members help clarify the variant’s significance?
How often does your lab reanalyze previous results for reclassification?
Are there any functional studies underway for this variant?
Can you set up a system to notify us if the classification changes?
These questions put you in an active role and help your clinical team prioritize follow-up. Laboratory policies regarding reinterpretation, notification timing, and fees vary. Families should ask the ordering clinician or laboratory whether reinterpretation is available, who is responsible for recontact if a classification changes, and whether current contact information is on file.
One of the most powerful things a family can do is contribute data to research. The SCN2A WorldMap Registry is a privacy-first global registry that creates a consented, geolocated cohort of families affected by SCN2A-related disorders. It makes the SCN2A community visible to pharmaceutical companies, regulators, and research funders. The WorldMap can help identify families with the same variant, support community connections, and facilitate future research participation. While registration does not itself produce the evidence needed for formal clinical reclassification — which requires appropriately collected and validated data evaluated through clinical variant-interpretation processes — building a visible, connected cohort is an essential step toward enabling the research that generates that evidence.
This is one of the most important questions families face. The clinical guidance is clear: a VUS should not be used as the basis for treatment decisions. Medical management should be guided by your child’s specific symptoms, clinical presentation, and family history rather than by an uncertain genetic finding. That said, a VUS does not mean your child’s symptoms should be ignored. Your child’s doctors can and should provide treatment based on the symptoms they observe, regardless of whether the genetic variant has been definitively classified. Work closely with your medical team to ensure that your child receives appropriate care based on their clinical picture. If the variant is later reclassified, that new information can then inform adjustments to the treatment plan. Ask your geneticist about periodic reanalysis so that any reclassification is captured in a timely manner. You can join the fight for answers by connecting with the Foundation’s advocacy efforts.
Every family that shares their genetic and clinical data brings the scientific community one step closer to resolving uncertain variants. The limbo of a VUS result is real, and reclassification is not guaranteed, but databases are growing, functional studies are advancing, and the tools for variant interpretation are improving. Your family’s participation in registries, clinical studies, and genetic retesting programs is not passive. It is the engine that drives discovery. Every family navigating an SCN2A finding, including those with a variant of uncertain significance, where it is not yet known whether the variant is disease-causing or benign and further evaluation is still needed — deserves answers, community, and hope. The work to find them depends on your support. Please consider making a donation to help fund the research and resources that move us all forward.
This content is provided for educational and informational purposes only and does not constitute medical advice. The information on this page is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
National Human Genome Research Institute (NHGRI). Variant of Uncertain Significance (VUS). https://www.genome.gov/genetics-glossary/Variant-of-Uncertain-Significance-VUS
Blueprint Genetics. VUS: The Most Maligned Result in Genetic Testing. https://www.blueprintgenetics.com/resources/vus-the-most-maligned-result-in-genetic-testing/
Chourasia, N., et al. (2024). A Retrospective Review of Reclassification of Variants of Uncertain Significance in a Pediatric Epilepsy Cohort Undergoing Genetic Panel Testing. Pediatric Neurology, 161, 101–107. https://www.sciencedirect.com/science/article/abs/pii/S0887899424003345
Corradi, A., et al. (2026). Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy. Neurology Genetics, 12(1), e200344. https://www.neurology.org/doi/10.1212/NXG.0000000000200344
Thompson, C.H., et al. (2023). Epilepsy-Associated SCN2A (NaV1.2) Variants Exhibit Diverse and Complex Functional Properties. Journal of General Physiology, 155(10), e202313375. https://rupress.org/jgp/article/155/10/e202313375/276183/Epilepsy-associated-SCN2A-NaV1-2-variants-exhibit
Thompson, C.H., et al. (2020). Alternative Splicing Potentiates Dysfunction of Early-Onset Epileptic Encephalopathy SCN2A Variants. Journal of General Physiology, 152(3), e201912442. https://rupress.org/jgp/article/152/3/e201912442/133672/Alternative-splicing-potentiates-dysfunction-of
Simons Foundation Autism Research Initiative (SFARI). High-Throughput Functional Annotation of Human SCN2A Variants. https://www.sfari.org/funded-project/high-throughput-functional-annotation-of-human-scn2a-variants/
Crawford, K., et al. (2021). Computational Analysis of 10,860 Phenotypic Annotations in Individuals with SCN2A-Related Disorders. Genetics in Medicine, 23(10), 1940–1950. https://www.nature.com/articles/s41436-021-01120-1
Kowanda, M., et al. (2024). Improvement of Variant Reclassification in Genetic Neurodevelopmental Conditions. Genetics in Medicine Open, 2, 101845. https://www.gimopen.org/article/S2949-7744(24)00991-9/fulltext
Richards, S., et al. (2015). Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the ACMG and AMP. Genetics in Medicine, 17(5), 405–424. https://www.acmg.net/docs/standards_guidelines_for_the_interpretation_of_sequence_variants.pdf
Martin, B.E., et al. (2024). Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort. Journal of Medical Genetics. https://pubmed.ncbi.nlm.nih.gov/38453479/
Mighton, C., et al. (2026). Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. https://www.sciencedirect.com/science/article/pii/S1098360026009019
SCN2A WorldMap Registry. SCN2A Foundation. https://worldmap.scn2afoundation.org/
Vlad Magdalin
Accelerating research and treatment for SCN2A-related disorders.
Get the latest SCN2A research and community news.