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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.