SummaryΒΆ

The Variant Summary is a user-defined summary of the clinical relevance of the specific variant.

The Variant Summary should be a synthesis of the existing Evidence Statements for the variant. Basic information on recurrence rates and biological/functional impact of the variant may be included, but the focus should be on the clinical impact. Additionally, for Predisposing variants, any appropriate American College of Medical Genetics (ACMG) evidence codes can be recorded. Associated sources (PubMed IDs), including valuable review articles that might not be appropriate for the development of Evidence Items, may be used as references for the Variant Summary.