Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

ABSTRACT:

Purpose

Data sharing through ClinVar offers a unique opportunity to identify interpretation differences between laboratories. As part of a ClinGen initiative, four clinical laboratories (Ambry, GeneDx, Partners Healthcare Laboratory for Molecular Medicine, and University of Chicago Genetic Services Laboratory) collaborated to identify the basis of interpretation differences and to investigate if data sharing and reassessment resolve interpretation differences by analyzing a subset of variants.

Methods

ClinVar variants with submissions from at least two of the four participating laboratories were compared. For a subset of identified differences, laboratories documented the basis for discordance, shared internal data, independently reassessed with the American College of Medic

SUBMITTER: Harrison SM 

PROVIDER: S-EPMC5600649 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature