Collaborator: Myriad Women’s Health

• The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

• The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

• Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditions

• Association of Family Cancer History With Pathogenic Variants in Specific Breast Cancer Susceptibility Genes

• Reduced risk BRCA1 and BRCA2 variants: Insight into classification of concordant variants between two commercial laboratories

  The identification and reporting of reduced risk BRCA1 and BRCA2 (RR-BRCA) variants is complex and poses challenges for patient counseling. We sought to compile and compare data for RR-BRCA variants reported by two clinical diagnostic laboratories.

  April 2, 2026