Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Steven M HarrisonJill S DolinskyAmy E Knight JohnsonTina PesaranDanielle R AzzaritiSherri BaleElizabeth C ChaoSoma DasLisa VincentMichael J BamshadPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2017)
Participating laboratories increased their overall concordance from 88.3 to 91.7%, indicating that sharing variant interpretations in ClinVar-thereby allowing identification of differences and motivation to resolve those differences-is critical to moving toward more consistent variant interpretations.Genet Med advance online publication 09 March 2017.