Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions
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DOI: 10.1002/humu.24468
Abstract: 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.… read more here.
Keywords: need regular; clinvar; aggregate classification; classification ... See more keywords