Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions

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 dat...

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Veröffentlicht in:Human mutation Jg. 43; H. 12; S. 2054 - 2062
Hauptverfasser: Davidson, Aimee L., Kondrashova, Olga, Leonard, Conrad, Wood, Scott, Tudini, Emma, Hollway, Georgina E., Pearson, John V., Newell, Felicity, Spurdle, Amanda B., Waddell, Nicola
Format: Journal Article
Sprache:Englisch
Veröffentlicht: United States John Wiley & Sons, Inc 01.12.2022
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ISSN:1059-7794, 1098-1004, 1098-1004
Online-Zugang:Volltext
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