ClinVarV
type: NamingSystem
node role: treeRoot
id:
  v: ClinVarV
text:
  status:
    v: generated
  div: Generated Narrative: NamingSystem ClinVarV Summary Defining URL http://terminology.hl7.org/NamingSystem/ClinVarV Version 1.0.0 Name ClinVarV Title ClinVar Variant ID Status active Definition ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variation and observed health status, and the history of that interpretation. ClinVar processes submissions reporting variants found in patient samples, assertions made regarding their clinical significance, information about the submitter, and other supporting data. The alleles described in submissions are mapped to reference sequences, and reported according to the HGVS standard. ClinVar then presents the data for interactive users as well as those wishing to use ClinVar in daily workflows and other local applications. ClinVar works in collaboration with interested organizations to meet the needs of the medical genetics community as efficiently and effectively as possible. Read more about using ClinVar. ClinVar supports submissions of differing levels of complexity. The submission may be as simple as a representation of an allele and its interpretation (sometimes termed a variant-level submission), or as detailed as providing multiple types of structured observational (case-level) or experimental evidence about the effect of the variation on phenotype. A major goal is to support computational (re)evaluation, both of genotypes and assertions, and to enable the ongoing evolution and development of knowledge regarding variations and associated phenotypes. ClinVar is an active partner of the ClinGen project, providing data for evaluation and archiving the results of interpretation by recognized expert panels and providers of practice guidelines (see https://www.ncbi.nlm.nih.gov/clinvar/docs/review_guidelines/). ClinVar archives and versions …
extension:
  url:
    v: http://hl7.org/fhir/5.0/StructureDefinition/extension-NamingSystem.url
  value:
    v: http://terminology.hl7.org/NamingSystem/ClinVarV
extension:
  url:
    v: http://hl7.org/fhir/5.0/StructureDefinition/extension-NamingSystem.version
  value:
    v: 1.0.0
extension:
  url:
    v: http://hl7.org/fhir/5.0/StructureDefinition/extension-NamingSystem.title
  value:
    v: ClinVar Variant ID
name:
  v: ClinVarV
status:
  v: active
kind:
  v: codesystem
date:
  v: 2022-03-11T00:00:00-00:00
publisher:
  v: National Center for Biotechnology Information, U.S. National Library of Medicine
contact:
  name:
    v: National Center for Biotechnology Information, U.S. National Library of Medicine; 8600 Rockville Pike, Bethesda MD, 20894 USA
  telecom:
    system:
      v: url
    value:
      v: https://www.ncbi.nlm.nih.gov/clinvar/
responsible:
  v: National Center for Biotechnology Information, U.S. National Library of Medicine
description:
  v: ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variation and observed health status, and the history of that interpretation. ClinVar processes submissions reporting variants found in patient samples, assertions made regarding their clinical significance, information about the submitter, and other supporting data. The alleles described in submissions are mapped to reference sequences, and reported according to the HGVS standard. ClinVar then presents the data for interactive users as well as those wishing to use ClinVar in daily workflows and other local applications. ClinVar works in collaboration with interested organizations to meet the needs of the medical genetics community as efficiently and effectively as possible. Read more about using ClinVar. ClinVar supports submissions of differing levels of complexity. The submission may be as simple as a representation of an allele and its interpretation (sometimes termed a variant-level submission), or as detailed as providing multiple types of structured observational (case-level) or experimental evidence about the effect of the variation on phenotype. A major goal is to support computational (re)evaluation, both of genotypes and assertions, and to enable the ongoing evolution and development of knowledge regarding variations and associated phenotypes. ClinVar is an active partner of the ClinGen project, providing data for evaluation and archiving the results of interpretation by recognized expert panels and providers of practice guidelines (see https://www.ncbi.nlm.nih.gov/clinvar/docs/review_guidelines/). ClinVar archives and versions submissions which means that when submitters update their records, the previous version is retained for review. Read more about submitting data to ClinVar at https://www.ncbi.nlm.nih.gov/clin…
unique id:
  type:
    v: uri
  value:
    v: http://www.ncbi.nlm.nih.gov/clinvar
  preferred:
    v: true
  comment:
    v: This is the URL endorsed by the HTA and is considered authoritative.
  period:
    start:
      v: 2022-02-16
unique id:
  type:
    v: oid
  value:
    v: 2.16.840.1.113883.6.319
  preferred:
    v: true