Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.

ABSTRACT: ClinVar provides open access to variant classifications shared from many clinical laboratories. Although most classifications are consistent across laboratories, classification differences exist. To facilitate resolution of classification differences on a large scale, clinical laboratories were encouraged to reassess outlier classifications of variants with medically significant differences (MSDs). Outliers were identified by first comparing ClinVar submissions from 41 clinical laboratories to detect variants with MSDs between the laboratories (650 variants). Next, MSDs were filtered for variants with ≥3 classifications (244 variants), of which 87.6% (213 variants) had a majority consensus in ClinVar, thus allowing for identification of outlier classifications in need of reassessment. Labo

SUBMITTER: Harrison SM 

PROVIDER: S-EPMC6188667 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature