Article
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2025
Bennett Gwendolyn, Karbassi Izabela, Chen Wenjie, Harrison Steven M, Lebo Matthew S, Meng Linyan, Nagan Narasimhan, Rigobello Robert, Rehm Heidi L
Abstract excerpt
PURPOSE: Genetic testing commonly yields a plethora of variants of uncertain significance (VUS) that can lead to ongoing uncertainty for patients and their caregivers. Although all VUS hold uncertainty, some VUS have more evidence in support of pathogenicity, whereas others have more evidence of a benign role. Sharing these nuances can help guide the investment in follow-up clinical and research investigations...
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