clinicalRelevance
Term | Description | Type | Properties | Example | Enum |
---|---|---|---|---|---|
clinicalRelevance | Indication of the clinical relevance of the variant Recommended: A value from the five-tiered classification from the American College of Medical Genetics (ACMG) designed to describe the likelihood that a genomic sequence variant is causative of an inherited disease. (NCIT:C168798). | string | NA | pathogenic | benign, likely benign, uncertain significance, likely pathogenic, pathogenic |