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BS1/BA1 thresholds derived from disease-specific genetic architectures result in decreased rates of VUS in clinically relevant genes

Date:
Thursday, Mar 20, 2025 10:30am – 11:30am
Conference:
ACMG 2025
Authors:
Ashley P.L. Marsh, Laura I. Hudish, Marcy E. Richardson, Matthew P. Johnson, Steven M. Harrison

Presenting Author: Matthew P. Johnson, PhD

Take home points: 

  1. When applying BS1/BA1 evidence, the adoption of gene-specific population frequency thresholds results in a decrease in VUS rates in clinically relevant genes.
  2. A reduction in VUS rates decreases the burden associated with a patient receiving an uncertain test result.
Abstract Poster