ClinvarNotProvidedProposition

Trial Use

This data class is at a trial use maturity level and may change in future releases. Maturity levels are described in the GKS Maturity Model.

A proposition for ClinVar submissions where the submitter did not provide a clinical classification. These submissions still carry variant-condition associations but lack a formal pathogenicity or clinical significance assessment.

JSON Schema: ClinvarNotProvidedProposition

Some ClinvarNotProvidedProposition attributes are inherited from ClinicalVariantProposition.

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 "ClinvarNotProvidedProposition".
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.
predicate	string	1..1	The relationship the Proposition describes between the subject variant and object condition. MUST be "hasNoProvidedClassificationFor".
object	object	0..1	An Entity or concept that is related to the subject of a Proposition via its predicate.
subjectVariant	MolecularVariation | CategoricalVariant | iriReference	0..1	A variant that is the subject of the Proposition.
geneContextQualifier	MappableConcept | iriReference	0..1	Reports a gene impacted by the variant, which may contribute to the association described in the Proposition.
alleleOriginQualifier	MappableConcept | iriReference	0..1	Reports whether the Proposition should be interpreted in the context of a heritable "germline" variant, an acquired "somatic" variant in a tumor, or a post-zygotic "mosaic" variant. While these are the most commonly reported allele origins, other more nuanced concepts can be captured (e.g. "maternal" vs "paternal" allele origin). In practice, populating this field may be complicated by the fact that some sources report allele origin based on the type of tissue that was sequenced to identify the variant, and others use it more generally to specify a category of variant for which the proposition holds. The stated intent of this attribute is the latter. However, if an implementer is not sure about which is reported in their data, it may be safer to create an Extension to hold this information, where they can explicitly acknowledge this ambiguity.
objectCondition	Condition | iriReference	1..1	The condition for which no classification was provided.