Clinical Domain Working Groups
Hearing Loss Variant Curation Expert Panel
Membership DocumentsThe ClinGen Hearing Loss Expert Panel represents members at over 15 institutions across 4 continents, with a diverse array of backgrounds, including physicians (clinical geneticists, otolaryngologists, neuro-otologists,), clinical laboratory diagnosticians, and clinical and basic research scientists and genetic counselors. All members have a focus on the genetics and genomics of hearing loss.
The Hearing Loss Expert Panel aims to specify the existing ACMG guidelines for variant classification in hearing loss genes and review variants for expert classification including resolving discrepancies in existing variant classification in ClinVar prioritizing the most common genes and variants associated to hearing loss.
Expert Panel Status
Documents
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ClinGen Hearing Loss Variant Curation Expert Panel COIConflict Of Interest (COI) - August 25, 2022
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ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation GuidelinesCuration Activity Procedures - March 29, 2022 - ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA and USH2A (Version 2) and for OTOF and MYO15A (Version 1) Archived Document
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Evaluating the impact of in silico predictors on clinical variant classificationPublications - August 10, 2021
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Expert Interpretation of Genes and Variants in Hereditary Hearing LossPublications - September 16, 2020
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Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.