Clinical Significance organizes submissions by clinical assertion type
| Class Code | VCF and ASN.1 Terms | ClinVar Display Terms |
|---|---|---|
| 0 | unknown | Uncertain significance |
| 1 | untested | not provided |
| 2 | non-pathogenic | Benign |
| 3 | probable-non-pathogenic | Likely benign |
| 4 | probable-pathogenic | Likely pathogenic |
| 5 | pathogenic | Pathogenic |
| 6 | drug-response | drug response |
| 7 | histocompatability | |
| 255 | other | other |
| confers sensitivity | ||
| risk factor | ||
| association | ||
| protective |
Variations for which there is not yet an enumerated clinical significance class. These variations are grouped in a clinical significance class called "other", which includes: Variations* that are found only in somatic cells and are with or without known trait of phenotype; Somatic or germline variations that are disease risk factors; Somatic or germline variations that act to protect a disease state (protective variants)
Note: If a variant's source is not asserted during submission, dbSNP assumes that the source of the variant is germline. Those variants submitted with the clinical phrase (clinic_phrase) tag set to "cancer" are reported as somatic.
Note: As assertion categories may change, see ClinVar for up-to-date clinical assertion definitions.
Note: The clinical significance terms presented in table 5 are based on terminology recommended by the American College of Medical Genetics and Genomics (ACMG). ACMG revisions are adopted by NCBI as quickly as possible. See http://www
From: The Database of Short Genetic Variation (dbSNP)
NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.