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What are variants of uncertain significance (VUS) in epilepsy genetic testing? How are they defined, and can those definitions change over time? Sharp Waves talks with Dr. Gemma Carvill as part of our genetic testing series.

RESOURCES

Standards for interpreting variants (American College of Medical Genetics)

Gene Reviews

ClinVar

GeneMatcher

Gnomad

ClinGen

ILAE genetic literacy series

EpiPred website for STXBP1 (developed by EpiMVP project - will be final by end of July)

Think Genetics paper – genetic testing in South Africa project

Link to Sharp Waves episode on genetic testing in LMICs

 

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