Article
Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions.
Human mutation - 1 Dec 2022
Davidson Aimee L, Kondrashova Olga, Leonard Conrad, Wood Scott, Tudini Emma, Hollway Georgina E, Pearson John V, Newell Felicity, Spurdle Amanda B, Waddell Nicola
Abstract excerpt
The clinical classification of variants may change with new information, however, there is limited guidance on how often significant changes in variant classification occur. We used ClinVar to examine how variant classification changes over time. We developed a custom parser and accessed variant data from ClinVar between January 2015 and July 2021. The ClinVar-assigned "aggregate" classification of variants in...
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