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.

The most recent version of our classification system is linked below; please feel free to use it in your own curation activities.  We ask that you not publish anything using this document until we have completed our manuscript detailing this system.  To reference this system in the interim, please use this URL.

Clinical Validity Classifications as of October 2015