Low Penetrance/Risk Allele Working Group
The Low-Penetrance/Risk Allele Working Group aims to develop a consensus on the terminology needed to categorize both risk alleles and low-penetrance Mendelian variants and to develop a standardized classification framework to evaluate these types of variants.
Recommended Terminology for Variants with Decreased Penetrance for Mendelian ConditionsSupporting Documents - February 18, 2020 - Recommendations from the ClinGen Low-Penetrance/Risk Allele Working Group on the terminology needed to categorize both risk alleles and low-penetrance Mendelian variants.
Working Group Membership
Membership spans many fields, including genetics, medical, academia, and industry.