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Article

Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2018

Bland Austin, Harrington Elizabeth A, Dunn Kyla, Pariani Mitchel, Platt Julia C K, Grove Megan E, Caleshu Colleen

Abstract excerpt

PurposeTo describe the frequency and nature of differences in variant classifications between clinicians and genetic testing laboratories.MethodsRetrospective review of variants identified through genetic testing ordered in routine clinical care by clinicians in the Stanford Center for Inherited Cardiovascular Disease. We compared classifications made by clinicians, the testing laboratory, and other laboratories...

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PMID: 29240077
DOI: 10.1038/gim.2017.212

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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