A module for clinical laboratory geneticists who are involved in the interpretation of genomic variants and are actively submitting variants to the ClinVar database. This module is available for Part IV Practive Improvement Credit through the American Board of Medical Genetics and Genomics (ABMGG).
Currently, a number of variants in ClinVar have been submitted by multiple submitters. In some instances, interpretations from different sources, including operating clinical laboratories, have different clinical significance assertions for the same variant. Although updated standards for interpreting genomic variants have allowed laboratories to resolve some differences, discrepancies remain due to differing interpretation methods, time points of interpretation, access to non-public evidence, and subjectivity in evidence evaluation. Collaboration to potentially resolve discrepant assertions, when possible, could lead to a more accurate reference database and to better health care for patients who harbor these variants.
Questions? - Contact clingen@clinicalgenome.org
Tool to facilitate identification of clinical significance discrepancies in ClinVar
Learn more »