A Systematic Framework for the Interpretation of Copy Number Variants - Webinar - Ambry Genetics
Explore a systematic framework for interpreting copy number variants in this informative webinar presented by Ambry Genetics. Delve into proposed updates to the ACMG guidelines for postnatal constitutional CNV interpretation, including the adoption of a 5-tier classification system and the implementation of a quantitative, evidence-based evaluation framework for copy number gains and losses. Learn about the importance of uncoupling variant classification from clinical interpretation and gain insights into improving inter-laboratory consistency. Discover how the new framework incorporates various evidence categories, special considerations, and a calculator tool for determining appropriate classifications. Presented by Erin Riggs, MS, CGC, an expert in gene and variant curation, this 55-minute webinar offers valuable knowledge for genetic professionals seeking to enhance their understanding of CNV interpretation and its clinical implications.