ClinvarScvStatement¶
Draft
This data class is at a draft maturity level and may change significantly in future releases.
A ClinVar SCV (submitted clinical variant) statement. Represents a single submitter's assertion about a variant-condition relationship, including their classification, direction, strength, method, and contributions. Allowable proposition types at SCV level: Germline classification (9 types): VariantPathogenicityProposition, ClinvarRiskFactorProposition, ClinvarProtectiveProposition, ClinvarDrugResponseProposition, ClinvarAffectsProposition, ClinvarAssociationProposition, ClinvarConfersSensitivityProposition, ClinvarOtherProposition, ClinvarNotProvidedProposition. Oncogenicity (1 type): VariantOncogenicityProposition. Somatic clinical impact (1 type): VariantClinicalSignificanceProposition with evidence lines carrying VariantTherapeuticResponseProposition, VariantDiagnosticProposition, or VariantPrognosticProposition. Conflicting data (1 type): ClinvarConflictingDataFromSubmitterProposition.
JSON Schema: ClinvarScvStatement
Some ClinvarScvStatement attributes are inherited from Statement, ClinvarScvStatementProperties.
Information Model¶
| Field | Type | Limits | Description |
|---|---|---|---|
id |
string |
0..1 | The 'logical' identifier of the Entity in the system of record, e.g. a UUID. This 'id' is unique within a given system, but may or may not be globally unique outside the system. It is used within a system to reference an object from another. |
type |
string |
0..1 | MUST be "Statement". |
name |
string |
0..1 | A primary name for the entity. |
description |
string |
0..1 | A free-text description of the Entity. |
aliases |
string[] (unordered) |
0..m | Alternative name(s) for the Entity. |
extensions |
ExtensionClinvarScvId | ExtensionClinvarScvVersion | ExtensionClinvarScvReviewStatus | ExtensionSubmittedScvLocalKey | ExtensionSubmissionLevel | ExtensionSubmittedScvClassification | ExtensionSubmittedCondition | ExtensionSubmittedConditionSet[] (unordered) |
0..m | SCV-level extensions including submission metadata, review status, and the submitter's original condition mapping. |
specifiedBy |
Method | iriReference |
0..1 | A specification that describes all or part of the process that led to creation of the Information Entity |
contributions |
Contribution[] (ordered) |
0..m | Specific actions taken by an Agent toward the creation, modification, validation, or deprecation of an Information Entity. |
reportedIn |
Document | iriReference[] (unordered) |
0..m | A document in which the the Information Entity is reported. |
proposition |
ClinvarProposition | iriReference |
0..1 | The proposition assessed by this SCV statement. Must be one of the GA4GH standard proposition types (pathogenicity, oncogenicity, clinical significance) or a ClinVar-specific proposition type (risk factor, protective, drug response, affects, association, confers sensitivity, other, not provided, conflicting data). |
direction |
string |
0..1 | A term indicating whether the Statement supports, disputes, or remains neutral w.r.t. the validity of the Proposition it evaluates. |
strength |
MappableConcept | iriReference |
0..1 | A term used to report the strength of a Proposition's assessment in the direction indicated (i.e. how strongly supported or disputed the Proposition is believed to be). Implementers may choose to frame a strength assessment in terms of how confident an agent is that the Proposition is true or false, or in terms of the strength of all evidence they believe supports or disputes it. |
quality |
MappableConcept | iriReference (draft) |
0..1 | A term used to report the quality of the assessment of a Proposition taking into consideration the reliability of the method, the contributor's self-reporting of the rigor of the evaluation, and the overall robustness of the supporting or disputing evidence. This is useful when there is a consistent policy and authority that manages and a governing framework for evaluating the quality of evidence. Also known as trust rating, review status or ranking. |
score |
number (draft) |
0..1 | A quantitative score that indicates the strength of a Proposition's assessment in the direction indicated (i.e. how strongly supported or disputed the Proposition is believed to be). Depending on its implementation, a score may reflect how confident that agent is that the Proposition is true or false, or the strength of evidence they believe supports or disputes it. Instructions for how to interpret the meaning of a given score may be gleaned from the method or document referenced in 'specifiedBy' attribute. |
classification |
MappableConcept | iriReference |
0..1 | A single term or phrase summarizing the result of direction and strength assessments of a Statement's Proposition, in terms of a classification of its subject. |
hasEvidence |
Statement | StudyResult | DataItem | iriReference[] (unordered) |
0..m | An individual piece of information that was evaluated as evidence in assessing the validity of the Proposition put forth by the Statement. |
hasEvidenceLines |
ClinvarSomaticEvidenceLine | EvidenceLine | iriReference[] (unordered) |
0..m | Evidence lines for this SCV statement. For somatic clinical impact (SCI) statements, evidence lines carry target propositions (VariantTherapeuticResponseProposition, VariantDiagnosticProposition, or VariantPrognosticProposition) and an evidence outcome reflecting the AMP/ASCO/CAP tier. Germline and oncogenicity SCVs typically do not have evidence lines. |