Narasimhan Nagan

The paper examines how variants of uncertain significance (VUS) are reclassified based on subclassification evidence levels across four clinical laboratories.

The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.

The paper resolves the classification of two GJB2 variants as pathogenic for autosomal recessive nonsyndromic hearing loss through expert consensus.