Clinician/General

Session # P749

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

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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.

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