Recommendations for Interpretation of Low Penetrance Variants and Risk Alleles
Explore the challenges and recommendations for interpreting low penetrance variants and risk alleles in this 56-minute webinar from the Cancer Genomics Consortium. Join co-chairs of the ClinGen Low-Penetrance / Risk Allele Work Group, Dr. Matthew S. Lebo and Dr. Ryan Schmidt, as they delve into the complexities surrounding variant interpretation at the lower end of the penetrance spectrum. Discover why classification of these variants often conflicts between laboratories and how genetic and experimental evidence that typically supports benign classification for high penetrance variants can complicate matters. Learn about the varying reporting practices and terminology usage among molecular diagnostic laboratories when dealing with low penetrance variants and risk alleles. Gain insights into the work being done to identify challenges in this area and understand the recommendations proposed to improve harmonization across the molecular diagnostic community.