Session # n/a

Clinical laboratories implement the ACMG/AMP guidelines to resolve differences in variant interpretations submitted to ClinVar.

Ranked as a top poster*

 

In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published a joint guideline for variant interpretation that provides a framework to classify variants. As part of a ClinGen initiative, four clinical laboratories, Ambry Genetics, GeneDx, Partners Laboratory for Molecular Medicine (LMM), and University of Chicago’s Genetic Services Laboratory, have collaborated to resolve variant interpretation differences identified in ClinVar by reassessing variants and comparing ACMG/AMP guidelines criteria. As of June 1, 2015, these laboratories submitted a total of 35,507 unique variants to ClinVar with 4878 variants interpreted by at least two of the participating labs, of which 4253 (87%) had concordant interpretations, 375 (8%) had uncertain significance vs likely benign/benign discrepancies (VUS vs LB/B), and 250 (5%) had pathogenic/likely pathogenic vs uncertain significance/likely benign/benign (P/LP vs VUS/LB/B) discrepancies.

• Authors: Steven M. Harrison; Jill Dolinsky; Lisa Vincent; Amy Knight Johnson; Danielle R. Azzariti; Tina Pesaran; Elizabeth Chao; Soma Das; Sherri Bale; Heidi L. Rehm
• Collaborators: ClinVar
• Conference: ACMG 2016
• Date: Tuesday, Mar 08, 2016 1:05pm - 3:15pm