Article

Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level

2024-11-13

Abstract excerpt

<h4>Purpose</h4> Genetic testing commonly yields a plethora of variants of uncertain significance (VUS) that can lead to ongoing uncertainty for patients and their caregivers. While all VUS hold uncertainty, some VUS have more evidence in support of pathogenicity while others have more evidence of a benign role. Sharing these nuances can help guide the investment in follow-up clinical and research investigations a...

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Literature Corpus work: f71241fc-c0cc-5da7-9ec4-6e5114a30b19
DOI: 10.1101/2024.11.13.24317242

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