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Article

Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.

The oncologist - 1 Jul 2017

Gradishar William, Johnson KariAnne, Brown Krystal, Mundt Erin, Manley Susan

Abstract excerpt

BACKGROUND: There is a growing move to consult public databases following receipt of a genetic test result from a clinical laboratory; however, the well-documented limitations of these databases call into question how often clinicians will encounter discordant variant classifications that may introduce uncertainty into patient management. Here, we evaluate discordance in BRCA1 and BRCA2 variant classifications...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28408614
DOI: 10.1634/theoncologist.2016-0431
PMCID: PMC5507641

Genes

BRCA1
BRCA2

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