Article

From Uncertain to Actionable: Significant Reduction in Variants of Uncertain Significance in Hereditary Germline Testing via Multi-Institutional Real-World Evidence

2025-08-15

Abstract excerpt

The clinical utility of genomic testing is constrained by variants of uncertain significance (VUS), which complicate diagnostic interpretation and patient management. The ACMG/AMP PS4 criterion, "prevalence in affected individuals statistically increased compared to controls," offers strong evidence for pathogenicity but is often challenging to apply due to the limited availability of robust, matched case-control...

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Literature Corpus work: 90d37528-bb78-5360-a8e3-3ba515ecbdc3
DOI: 10.1101/2025.08.12.25333547

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