P616: Specification of frequency criteria for secondary findings genes to improve variant classification concordance
Abstract
The return of secondary findings (SF) is well-established in clinical testing and is frequently employed in clinical research. The American College of Medical Genetics and Genomics (ACMG) maintains a list of monogenic disease entities (MDEs, defined as a gene-phenotype pair) for SF variant return, which is annually reviewed and updated. In 2015 the ACMG and the Association for Molecular Pathology (AMP) published criteria for classifying sequence variant pathogenicity. The Clinical Genome Resource (ClinGen), in support of maintaining and streamlining the use of ACMG SF, is providing SF-specific guidance.
Fields of Study & Subjects
Genomics and Rare Diseases
BRCA gene mutations in cancer
Prenatal Screening and Diagnostics
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104106–104106
- Publication date
- 1 January 2026
- Language
- EN