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Article

Clinical implications of conflicting variant interpretations in the cancer genetics clinic.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2023

Zukin Elyssa, Culver Julie O, Liu Yuxi, Yang Yunqi, Ricker Charité N, Hodan Rachel, Sturgeon Duveen, Kingham Kerry, Chun Nicolette M, Rowe-Teeter Courtney, Singh Kathryn, Zell Jason A, Ladabaum Uri, McDonnell Kevin J, Ford James M, Parmigiani Giovanni, Braun Danielle, Kurian Allison W, Gruber Stephen B, Idos Gregory E

Abstract excerpt

PURPOSE: The aim of this study was to describe the clinical impact of commercial laboratories issuing conflicting classifications of genetic variants. METHODS: Results from 2000 patients undergoing a multigene hereditary cancer panel by a single laboratory were analyzed. Clinically significant discrepancies between the laboratory-provided test reports and other major commercial laboratories were identified,...

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Identifiers

PMID: 37057674
DOI: 10.1016/j.gim.2023.100837
PMCID: PMC10416421

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