Genetic testing: Variants of uncertain significance (VUS) - Dr. Gemma Carvill

Send comments and feedback 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 J...

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Epilepsy affects more than 50 million people. Every day. Sharp Waves brings you stories about people with epilepsy, physicians treating epilepsy, and researchers studying the condition. We'll cover the latest research, challenges to diagnosis and treatment, and issues from around the world.