The ClinGen Phenotype Working Group aims to support the collection and submission of phenotypic data to ClinGen-related resources.
- Support standardized submission of disease and phenotype terms to ClinVar.
- Support Clinical Domain Working Groups in selecting appropriate ontologies for their respective clinical domains.
Initiatives & Updates
Leadership & Members
Danielle Azzariti, MS, CGC
Heidi Rehm, PhD
Principal Investigator, "Unified Clinical Genomics Database" (U41 Grant)