Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.

ABSTRACT:

Importance

Variants of uncertain significance (VUSs) are rampant in clinical genetic testing, frustrating clinicians, patients, and laboratories because the uncertainty hinders diagnoses and clinical management. A comprehensive assessment of VUSs across many disease genes is needed to guide efforts to reduce uncertainty.

Objective

To describe the sources, gene distribution, and population-level attributes of VUSs and to evaluate the impact of the different types of evidence used to reclassify them.

Design, setting, and participants

This cohort study used germline DNA variant data from individuals referred by clinicians for diagnostic genetic testing for hereditary disorders. Participants included individuals for whom gene panel testing was conducted between September

SUBMITTER: Chen E 

PROVIDER: S-EPMC10600581 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature