| Name | Type | Description | Notes |
|---|---|---|---|
| accessionVersion | String | The ClinVar RCV record that links this particular allele to this particular phenotype. For more information, see http://www.ncbi.nlm.nih.gov/clinvar/intro/ | |
| alleleId | Integer | ClinVar's identifier for this allele. For more information, see http://www.ncbi.nlm.nih.gov/clinvar/docs/help/ | |
| measureSetId | Integer | ClinVar's identifer for a set of variants that may influence the phenotype together, such as in a haplotype. A measure-set aggregates together several allele_ids. | |
| variantIdentifiers | List<ExternalRef> | External variant identifers, simliar to RefSNP numbers. They are independent of RCV's altogether. They should be the same for every RCV in a RefSnp. Formerly 'source-link'. | |
| refsnpId | String | The associated RefSnp ID according to ClinVar at time of dbSNP revision creation. | |
| createDate | String | The date and time the ClinVar RCV was created | |
| updateDate | String | The date the ClinVar RCV was last updated. If never updated, then same as create-date. | |
| lastEvaluatedDate | String | The date the submitter last evaluated the clinical significance for this record. If absent, then value not submitted by submitter. | [optional] |
| reviewStatus | ReviewStatusEnum | The status of the RCV | |
| diseaseNames | List<String> | Each RCV record is associated with one or more preferred disease names | |
| clinicalSignificances | List<ClinicalSignificancesEnum> | The signifiances of this allele in the context of this disease | |
| diseaseIds | List<ExternalRef> | There are zero or more disease-ids per RCV | |
| origins | List<OriginsEnum> | The biological origins of the allele. Each SCV can have many values for this field and this reports their aggregate (taken from the RCV), with duplicates removed. | |
| collectionMethod | List<String> | How each SCV was collected. Each SCV can have many values for this field and this reports their aggregate (taken from the RCV), with duplicates removed. | |
| citations | List<Integer> | Set of PubMed IDs (PMIDs) associated with this RCV | |
| geneIds | List<String> | Set of ClinVar reported genes associated with this RCV |
| Name | Value |
|---|---|
| NO_ASSERTION_PROVIDED | "no_assertion_provided" |
| NO_ASSERTION_CRITERIA_PROVIDED | "no_assertion_criteria_provided" |
| CRITERIA_PROVIDED_SINGLE_SUBMITTER | "criteria_provided_single_submitter" |
| CRITERIA_PROVIDED_MULTIPLE_SUBMITTERS_NO_CONFLICTS | "criteria_provided_multiple_submitters_no_conflicts" |
| CRITERIA_PROVIDED_CONFLICTING_INTERPRETATIONS | "criteria_provided_conflicting_interpretations" |
| REVIEWED_BY_EXPERT_PANEL | "reviewed_by_expert_panel" |
| PRACTICE_GUIDELINE | "practice_guideline" |
| Name | Value |
|---|---|
| NOT_PROVIDED | "not_provided" |
| PATHOGENIC | "pathogenic" |
| LIKELY_PATHOGENIC | "likely_pathogenic" |
| BENIGN | "benign" |
| LIKELY_BENIGN | "likely_benign" |
| DRUG_RESPONSE | "drug_response" |
| CONFERS_SENSITIVITY | "confers_sensitivity" |
| RISK_FACTOR | "risk_factor" |
| ASSOCIATION | "association" |
| PROTECTIVE | "protective" |
| CONFLICTING_INTERPRETATIONS_OF_PATHOGENICITY | "conflicting_interpretations_of_pathogenicity" |
| UNCERTAIN_SIGNIFICANCE | "uncertain_significance" |
| AFFECTS | "affects" |
| ASSOCIATION_NOT_FOUND | "association_not_found" |
| OTHER | "other" |
| Name | Value |
|---|---|
| UNKNOWN | "unknown" |
| GERMLINE | "germline" |
| SOMATIC | "somatic" |
| DE_NOVO | "de_novo" |
| INHERITED | "inherited" |
| MATERNAL | "maternal" |
| PATERNAL | "paternal" |
| UNIPARENTAL | "uniparental" |
| BIPARENTAL | "biparental" |
| NOT_REPORTED | "not_reported" |
| TESTED_INCONCLUSIVE | "tested_inconclusive" |
| NOT_APPLICABLE | "not_applicable" |
| EXPERIMENTALLY_GENERATED | "experimentally_generated" |