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ClinVar and ClinGen

ClinVar partners with ClinGen to advance knowledge connecting human variation to human health.  Although both support centralization of information to improve access, there are some differences worth noting. This page summarizes functions specific to ClinGen, with links to more information on ClinGen's web site .

Read more about our partnership.

ClinGen-specific functions

Expert panels

ClinGen provides a review process for organizations that wish to be recognized in ClinVar as an expert panel.

Application for status of expert panel

Practice guidelines

ClinGen provides a review process for organizations that wish to be recognized in ClinVar as providers of practice guidelines.

Application for recognitions as a provider of practice guidelines

Patient participation

GenomeConnect - The ClinGen patient portal

GenomeConnect: Patient participation portal to promote sharing of genetic and health information

Comparison of ClinVar and ClinGen

ClinVar is like PubMed for clinical variants

  • It is a long term internally funded government archive.
  • It collects data about genotype-phenotype relationships from many contributors.
  • Each contribution is intellectually attributed to the author, not to ClinVar.
  • ClinVar sets the editorial and structural standards for the data, but the intellectual content comes from the author.
  • Authors in ClinVar may provide data that disagrees with each other.
  • ClinVar contains contributions at many levels: basic reports, as well as authoritative reviews or guidelines. These different levels of report are explicitly flagged and clearly distinguished from each other.

ClinGen is like a scientific journal that publishes reviews

  • It may have various funding sources and lifetimes.
  • It reviews data about genotype-phenotype relationships, from ClinVar and other sources.
  • It has an editorial board that reviews credentials of data sources.
  • It publishes reports about specific genotype-disease association topics.
  • Each report represents the intellectual effort of the authors and the "journal" staff.
  • The report may be available directly from the website in various forms.
  • The report will be deposited in ClinVar in a standard form for long-term archiving and for uniform access by users.

ClinGen is only one such "journal" that may publish review articles in ClinVar. For example, the InSiGHT group is already another such "journal" with its initial submission focussed on variants related to Lynch syndrome .

Last updated: 2018-05-31T13:20:21Z