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Article

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2017

Yang Shan, Lincoln Stephen E, Kobayashi Yuya, Nykamp Keith, Nussbaum Robert L, Topper Scott

Abstract excerpt

PurposeClinVar is increasingly used as a resource for both genetic variant interpretation and clinical practice. However, controversies exist regarding the consistency of classifications in ClinVar, and questions remain about how best to use these data. Our study systematically examined ClinVar to identify common sources of discordance and thus inform ongoing practices.MethodsWe analyzed variants that had...

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Identifiers

PMID: 28569743
DOI: 10.1038/gim.2017.60
PMCID: PMC5632819

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