Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.

ABSTRACT:

Purpose

Genetic variants at the low end of the penetrance spectrum have historically been challenging to interpret because their high population frequencies exceed the disease prevalence of the associated condition, leading to a lack of clear segregation between the variant and disease. There is currently substantial variation in the classification of these variants, and no formal classification framework has been widely adopted. The Clinical Genome Resource Low Penetrance/Risk Allele Working Group was formed to address these challenges and promote harmonization within the clinical community.

Methods

The work presented here is the product of internal and community Likert-scaled surveys in combination with expert consensus within the Working Group.

Results

We formally

SUBMITTER: Schmidt RJ 

PROVIDER: S-EPMC10939896 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature