P558: Copy number variants involving ACMG secondary finding genes identified by routine genome-wide testing in a clinical pediatric population*

Since 2013, the American College of Medical Genetics and Genomics (ACMG) has provided policies on the reporting of medically-actionable, likely pathogenic and pathogenic secondary findings detected through routine exome and genome sequencing. While these recommendations have helped standardize the way clinical laboratories report sequencing variants to patients as secondary findings, the policies do not extend to other variant types, such as copy number variants. In this study, we retrospectively analyzed clinical genome-wide chromosomal microarray (CMA), exome sequencing (ES), and genome sequencing (GS) results from a large cohort of individuals (n>21,000) with a broad range of phenotypes.