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

Send comments and feedbackWhat 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.RESOURCESStandards for interpreting variants (American College of Medical Genetics)Gene ReviewsClinVarGeneMatcherGnomadClinGenILAE genetic literacy seriesEpiPred website for STXBP1 (developed by EpiMVP project - will be final by end of July)Think Genetics paper – genetic testing in South Africa projectLink to Sharp Waves episode on genetic testing in LMICs  Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.Let us know how we're doing:  [email protected] International League Against Epilepsy is the world's preeminent association of health professionals and scientists, working toward a world where no person's life is limited by epilepsy. Visit us on Facebook, Instagram, and LinkedIn.