Evaluating the Impact of ClinGen Variant Curation Expert Panel Criteria Specifications on Variant Interpretation Across Multiple Genes

Gene specific variant interpretation guidelines are constantly being published to refine variant classification. The development, implementation and benefit of such guidelines require careful assessment. This study evaluates the utility of these guidelines on variant interpretation. All actionable genes listed in ACMG-Secondary findings v3.3 genes with available ClinGen Variant Curation Expert Panel (VCEP) criteria specifications were analyzed. A total of 1,223 variants in these genes were classified using the ACMG/AMP and revised according to the VCEP specifications.