Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

Mayher J PatelMarina T DiStefanoAndrea M OzaMadeline Y HughesEmma H WilcoxSarah E HemphillBrandon J CushmanAndrew R GrantRebecca K SiegertJun ShenAlex ChapinNicole J BoczekLisa A SchimmentiKiyomitsu NaraMargaret KennaHela AzaiezKevin T BoothKaren B AvrahamHannie KremerAndrew J GriffithHeidi L RehmSami S AmrAhmad N Abou Tayounnull null

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

Expert specification and application of the HL-specific ACMG/AMP guidelines effectively resolved discordant interpretations in ClinVar. This study highlights the utility of ClinGen VCEPs in supporting more consistent clinical variant interpretation.

Keyphrases

clinical practice
protein kinase
hearing loss