Figure 1.

ClinGen Clinical Validity Classifications and Qualitative Descriptions

The suggested minimum criteria needed to obtain a given classification are described for each clinical validity classification. The types of evidence comprising these criteria are described in the text. The default classification for genes without a convincing human disease-causing variant is “No Reported Evidence.” The level of evidence needed for each supportive gene-disease association category builds upon the previous category (e.g., “Limited” builds upon “Moderate”). Gene-disease associations classified as “Contradictory” likely have supporting evidence as well as opposing evidence, but are described separately from the classifications for supportive gene-disease associations.