Somatic/Germline Variant Curation Group


The Somatic/Germline Working Group aims to understand how to incorporate somatic cancer variant information into interpreting germline variants in the context of hereditary cancers. We have proposed limited, targeted points at which data such as cancer hot spots and focal somatic LOH can be used to aid germline variant interpretation.   

Expert Status - In progress

Step 1
Step 2
Step 3
Step 4
Define Group
In progress
Develop Classification Rules
Pilot Rules
Expert Panel Approval

Leadership

Sharon E. Plon, MD, PhD

Michael Walsh, MD


Coordinators

Please contact a coordinator if you have questions.

Deborah Ritter, PhD


Membership

14 members contribute to the Somatic/Germline Variant Curation Group. All Members
What is VARIANT CURATION?

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.