Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar

Springer Science and Business Media LLC - Tập 11 Số 1 - 2019
Steven M. Harrison1, Heidi L. Rehm1
1Medical & Population Genetics Program and Genomics Platform, Broad Institute of MIT and Harvard, Main Street, Cambridge, MA, 02142, USA

Tóm tắt

AbstractIn 2015, professional guidelines defined the term ‘likely pathogenic’ to mean with a 90% chance of pathogenicity. To determine whether current practice reflects this definition, ClinVar classifications were tracked from 2016 to 2019. During that period, between 83.8 and 99.1% of likely pathogenic classifications were reclassified as pathogenic, depending on whether LP to VUS reclassifications are included and on how these classifications are categorized.

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Springer Science and Business Media LLC

Tập 11 Số 1

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