Classifications¶
Each statement type has a set list of classification values to which ClinVar normalizes historic or similar classification terms used by some submitters. These classification terms are mapped to the GKS VA statement class' direction and strength.
Germline Classification¶
The Germline Classification category groups 9 statement types.
| # | Statement Type | Classification | Direction | Strength |
|---|---|---|---|---|
| G.01 | Pathogenicity | Pathogenic | supports | definitive |
| Pathogenic, low penetrance | supports | definitive | ||
| Risk allele | supports | definitive | ||
| Likely pathogenic | supports | likely | ||
| Likely pathogenic, low penetrance | supports | likely | ||
| Likely risk allele | supports | likely | ||
| Pathogenic/Likely pathogenic | supports | \<null> | ||
| Uncertain significance | neutral | \<null> | ||
| Uncertain risk allele | neutral | \<null> | ||
| conflicting data from submitters | neutral | \<null> | ||
| Benign | disputes | definitive | ||
| Likely benign | disputes | likely | ||
| Benign/Likely benign | disputes | \<null> | ||
| G.02 | Drug Response | drug response | supports | \<null> |
| G.03 | Risk Factor | risk factor | supports | \<null> |
| G.04 | Protective | protective | supports | \<null> |
| G.05 | Affects | Affects | supports | \<null> |
| G.06 | Association | association | supports | \<null> |
| association not found | disputes | \<null> | ||
| G.07 | Confers Sensitivity | confers sensitivity | supports | \<null> |
| G.08 | Other | other | supports | \<null> |
| G.09 | Not Provided | not provided | supports | \<null> |
Oncogenicity Classification¶
The Oncogenicity Classification category groups only 1 statement type.
| # | Statement Type | Classification | Direction | Strength |
|---|---|---|---|---|
| O.10 | Oncogenicity | Oncogenic | supports | definitive |
| Likely oncogenic | supports | likely | ||
| Uncertain significance | neutral | \<null> | ||
| Benign | disputes | definitive | ||
| Likely benign | disputes | likely |
Somatic Clinical Impact¶
The Somatic Clinical Impact category groups 1 primary statement type with up to 3 evidence statement types.
Clinical Significance (Primary)¶
| # | Statement Type | Classification | Direction | Strength |
|---|---|---|---|---|
| S.11 | Clinical Significance | Tier I - Strong | supports | strong |
| Tier II - Potential | supports | potential | ||
| Tier III - Unknown | neutral | \<null> | ||
| Tier IV - Benign/Likely benign | disputes | \<null> |
Evidence Statement Types¶
All Tier I and II Clinical Significance statements MUST have at least one of the following statement types as evidence. These sub-statement types are critical to Tier I and II clinical significance submissions in ClinVar.
| # | Statement Type | Direction | Strength |
|---|---|---|---|
| S.12 | Therapeutic Response | supports | strong or potential |
| S.13 | Diagnostic | supports | strong or potential |
| S.14 | Prognostic | supports | strong or potential |