The Cardiovascular Disease Working Group aims to create a comprehensive, standardized knowledge base of genes and variants relevant for cardiovascular genetic and genomic medicine.
- Identify clinical cardiovascular molecular genetic laboratories and facilitate their data submission to ClinVar.
- Identify and recruit domain experts who are willing and able to participate in projects including but not limited to gene and variant curation.
- Develop and implement variant curation processes for cardiovascular disease genes.
- Disseminate expert consensus gene and variant curations via ClinVar and publications
- Curate and adjudicate genes associated with cardiovascular disease using ClinGen's Gene Curation Working Group’s “Clinical Validity classifications”
- Define the phenotypic and other data that are needed to assess pathogenicity (e.g., functional assays, histopathology) for ClinGenDB.
Publications by the Cardiovascular WG
In-Person Meetings Photos