ClinGen disease-specific working groups are focused on specifying the ACMG-AMP guidelines for diseases of interest, including minor allele frequency thresholds, gene-specific functional assay and domain data, as well as providing further quantitative guidance on individual criteria such as segregation data, population data and case data. ClinGen's Sequence Variant Interpretation (SVI) Working Group aims to standardize application of the ACMG/AMP guidelines by providing recommendations and harmonizing approaches to adapting the guidelines.

2015 ACMG/AMP Sequence Variant Interpretation Guidelines

Learn more »