ClinvarOtherProposition¶
Draft
This data class is at a draft maturity level and may change significantly in future releases.
A proposition for ClinVar submissions classified as "other" that do not fit any standard or named classification category. ClinVar has stopped accepting new submissions with this classification, but historical submissions remain.
JSON Schema: ClinvarOtherProposition
Some ClinvarOtherProposition attributes are inherited from ClinvarGermlineCustomProposition.
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 "ClinvarOtherProposition". |
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 |
Extension[] (unordered) |
0..m | A list of extensions to the Entity, that allow for capture of information not directly supported by elements defined in the model. |
subject |
MolecularVariation | CategoricalVariant | iriReference |
0..1 | A variant that is the subject of the Proposition. |
predicate |
string |
0..1 | The relationship the Proposition describes between the subject variant and object condition. MUST be "isClinvarOtherAssociationFor". |
object |
Condition | ConditionSet | iriReference |
0..1 | The condition for which the variant is associated. |
geneContextQualifier |
MappableConcept | iriReference |
0..1 | Reports a gene impacted by the variant, which may contribute to the association described in the Proposition. |
modeOfInheritanceQualifier |
MappableConcept | iriReference |
0..1 | Reports a pattern of inheritance expected for the effect of the variant. |
penetranceQualifier |
MappableConcept | iriReference |
0..1 | Reports the penetrance of the effect - the extent to which the variant impact is expressed by carriers. |