P567: Evaluating dosage sensitivity predictors for clinical copy number variant classification*

In 2020, the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) released a joint consensus statement outlining a semi-quantitative, points-based framework for clinical copy number variant (CNV) classification. These guidelines formalized how diverse evidence types (eg, CNV genomic content, functional impact, population frequency data, etc) could be weighted and combined to standardize CNV classification across laboratories. The framework suggested incorporating computational (in silico) predictors of gene dosage sensitivity when a CNV does not overlap any gene or region previously established as dosage sensitive or insensitive.