ClinVarV
type: CodeSystem
node role: treeRoot
id:
  v: ClinVarV
text:
  status:
    v: generated
  div:
    v: Generated Narrative: CodeSystem ClinVarV This case-sensitive code system http://www.ncbi.nlm.nih.gov/clinvar defines codes, but no codes are represented here
url:
  v: http://www.ncbi.nlm.nih.gov/clinvar
  l: clinvar
version:
  v: 1.0.1
name:
  v: ClinVarV
title:
  v: ClinVar Variant ID
status:
  v: active
experimental:
  v: false
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/
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…
copyright:
  v: Information that is created by or for the US government are within the public domain. Public domain information on the National Library of Medicine (NLM) Web pages may be freely distributed and copied. However, it is requested that in any subsequent use of this work, NLM be given appropriate acknowledgment. NOTE: This site contains resources which incorporate material contributed or licensed by individuals, companies, or organizations that may be protected by U.S. and foreign copyright laws. These include, but are not limited to PubMed Central (PMC) (see PMC Copyright Notice via https://www.ncbi.nlm.nih.gov/pmc/about/copyright/), Bookshelf (see Bookshelf Copyright Notice via https://www.ncbi.nlm.nih.gov/books/about/copyright/), OMIM (see OMIM Copyright Status via https://omim.org/help/copyright), and PubChem. All persons reproducing, redistributing, or making commercial use of this information are expected to adhere to the terms and conditions asserted by the copyright holder. Transmission or reproduction of protected items beyond that allowed by fair use (https://www.copyright.gov/fls/fl102.html)(PDF) as defined in the copyright laws requires the written permission of the copyright owners. For information on NCBI's policies and disclaimers for use, see here https://www.ncbi.nlm.nih.gov/home/about/policies/.
case sensitive:
  v: true
content:
  v: not-present