A statement (assertion) based on experimental evidence that a variant has a clinical phenotype. Clinical assertions submitted with a variant may or may not be specific as to the nature of the associated phenotype. Since clinical assertions are based on experimental evidence, they cannot be seen as a conformation of a clinical phenotype, even if there are multiple claims by different submitters of a specific clinical phenotype for a particular variant.

Clinical assertions can fall into one of the following categories:

• Pathogenic
• Probably Pathogenic
• Probably Non-pathogenic
• Non-pathogenic [benign]
• Affecting Drug Response
• Affecting Histocompatability
• Unknown
• Untested
• Other

As assertion categories may change, see ClinVar for up-to-date assertion definitions.

Example: For rs report for rs328, the asserted clinical significance for the cluster is clearly stated at the top of the report as well as in the “Allele” subsection.

For more information regarding clinical assertions, see the clinvar.vcf.gz section of “Human Variation Sets in VCF Format” or the FAQ for NCBI Variation Resources.

Note: NCBI does not independently verify assertions and cannot endorse their accuracy. Information obtained through this resource is not a substitute for professional genetic counseling and is not intended for use as the basis of medical decision making.