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Article

Legacy Genetic Testing Results for Cancer Susceptibility: How Common are Conflicting Classifications in a Large Variant Dataset from Multiple Practices?

Annals of surgical oncology - 1 Jul 2020

Yin Kanhua, Liu Yuxi, Lamichhane Basanta, Sandbach John F, Patel Gayle, Compagnoni Gia, Kanak Richard H, Rosen Barry, Ondrula David P, Smith Linda, Brown Eric, Gold Linsey, Whitworth Pat, App Colleen, Euhus David, Semine Alan, Dwight Lyons S, Lazarte Melford Allan C, Parmigiani Giovanni, Braun Danielle, Hughes Kevin S

Abstract excerpt

PURPOSE: The classification of germline variants may differ between labs and change over time. We apply a variant harmonization tool, Ask2Me VarHarmonizer, to map variants to ClinVar and identify discordant variant classifications in a large multipractice variant dataset. METHODS: A total of 7496 variants sequenced between 1996 and 2019 were collected from 11 clinical practices. Variants were mapped to ClinVar,...

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PMID: 32342295
DOI: 10.1245/s10434-020-08492-9

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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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