OP041: Implementation of 2019 ACMG technical standards for the interpretation and reporting of constitutional CNVs: Experiences from an academic reference laboratory

Abstract

Classification and reporting of constitutional copy-number variants (CNVs) in the clinical setting can be challenging and may result in discrepancies in interpretation for various reasons. In 2019, the ACMG and ClinGen published technical standards (2019 CNV guidelines) to guide the evaluation of constitutional CNVs. To improve consistency and accuracy in classification and reporting practices at ARUP Laboratories, we began using the 2019 CNV guidelines for genomic microarray testing beginning in 2020, including the adoption of the 5-tier variant classification system, incorporation of the scoring metrics into our CNV investigation workflow, and changing our reporting practices for CNVs involving reduced penetrance or autosomal recessive (AR) disease risk.