Gene-Disease Clinical Validity Classification Framework

The Gene Curation Working Group Members have developed a tiered framework for assessing the evidence that supports or refutes any claimed associations between genes and genetic disorders.  The “clinical validity” of gene-disease associations is organized into tiers, with accompanying evidence, that can be transparently and systematically evaluated.  These tiers of clinical validity can then be used to prioritize genes for analysis in various clinical contexts.


Clinical Validity Classifications as of November 2017