Article
Imprecision medicine: Systematic gaps in reporting variants of uncertain significance (VUS) and their reclassifications.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2025
Folta Andrew, Sedeño Cortés Adriana E, Gupta Pankhuri, McEwen Abbye E, Kao Eric Y, Horike-Pyne Martha, Stone Jeremy, Shirts Brian H, Dubard-Gault Marianne E, Fowler Douglas M, Starita Lea M, Hisama Fuki M, Stergachis Andrew B
Abstract excerpt
PURPOSE: Variants of uncertain significance (VUS) are frequently encountered during clinical genetic testing. To explore the clinical burden of VUS, we developed the Brotman Baty Institute Clinical Variant Database, which is an electronic health record (EHR)-linked database of clinical germline genetic variant information from patients with rare genetic disorders seen at 2 tertiary academic medical centers....
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