The goal of the Sequence Variant Interpretation (SVI) Working Group is to support the refinement and evolution of the ACMG/AMP Interpreting Sequence Variant Guidelines to develop quantitative approaches to variant interpretation.
The Sequence Variant Interpretation Task Team also consults with and supports Expert Panel groups to develop gene- and disease-specific refinements of the ACMG/AMP Interpreting Sequence Variant Guidelines to increase the uniformity and consistency of the Expert Panel recommendations.
The SVI Working Group has representation from the following ClinGen curation groups: Cardiovascular CDWG, Hereditary Hearing Loss CDWG, Inborn Errors of Metabolism CDWG, PTEN Expert Panel, RASopathies Expert Panel, Biocurators WG and the Variant Curation Interface development team.
SVI approved ACMG/AMP guidelines specified by ClinGen Expert Panels.
SVI provides general recommendations for using the ACMP/AMP criteria to improve consistency in usage and transparency in classification rationale.