The Hearing Loss Working Group aims to create a comprehensive, standardized knowledge base of genes and variants relevant to syndromic and nonsyndromic hearing loss.
Goals:
Related Manuscripts:
Hearing Loss Gene Curation Expert Panel | Status - |
Hearing Loss Variant Curation Expert Panel | Status - Step 4 |
Please contact a coordinator if you have questions.
Andrea Oza, MS, CGC
amoza@partners.org
Andrea Oza, MS, CGC
amoza@partners.org
A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.
A systematic process of evaluating evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern.