Copy-number variants in the ACMG secondary finding genes: A reporting framework for clinical cytogeneticists.

Purpose: To determine the pathogenicity and frequency of copy-number variants (CNV) in the 81 secondary finding (SFv3.2) genes recommended by the American College of Medical Genetics and Genomics (ACMG).

Methods: Review of published evidence on pathogenicity of partial or complete copy-number losses or gains in ACMG SFv3.

Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0.

Analysis of exome data from the latest release of the Genome Aggregation Database (gnomAD v.4.1.