ClinGen is defining the clinical relevance of genes and variants
Founded in 2013 by the National Human Genome Research Institute, ClinGen is a growing collaborative effort, involving three grants, nine principal investigators and over 2,400 contributors from more than 68 countries. Below are a series of recent updates that ClinGen has been working on.
Clinical Genomics Laboratory Community
Visit this page if you're a clinical genomics laboratory, or a platform or database that supports these laboratories, and are interested in getting involved.
Guidance for Monogenic Disease Nomenclature
Now available from the ClinGen Disease Naming Advisory Committee.
ClinGen Downloads and APIs
Visit our File Downloads and APIs page for a summary of available ClinGen curation files and API resources.
Volunteer to Curate
Please take a brief survey to tell us more about your interests and desired level of involvement so we can pair you with an appropriate curation activity and/or Expert Panel.
New to ClinGen? Learn how to get started...
Learn more about our efforts by choosing one of the options below.
Curation Activities
Clinical Actionability
Are there actions that could be taken to improve outcomes for patients with this genetic risk?
Learn More Browse Curations
Dosage Sensitivity
Does loss or gain of a copy of this gene or genomic region result in disease?
Learn More Browse Curations
Somatic Cancer Variant
Somatic Cancer Clinical Domain Working Group curates the clinical significance of genomic anomalies associated with different cancer types within the following diseases specific task forces - pediatric cancers, pancreatic cancer, lung cancer and genitourinary cancers
Learn More Interface
Baseline Annotation
Baseline annotation focuses on annotating evidence in the biomedical literature in a structured and standardized way, thus supporting our expert panels, working groups, and curation processes.
Learn More Community Curation Database
Recent Updates
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May 24, 2024 GenomeConnect - Second Quarter 2024 Newsletter
This is a copy of the GenomeConnect Second Quarter 2024 Newsletter that is accessible to screen readers. The newsletter is also linked here: https://create.piktochart.com/output/f6d1a1bf4b49-genome-connect-2024-q2-newsletter. -
April 25, 2024 Generating Clinical-Grade Gene–Disease Validity Classifications Through the ClinGen Data Platforms
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April 24, 2024 ClinGen Job Opportunities
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April 19, 2024 ClinGen Quarterly Update January - March 2024
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April 7, 2024 ClinGen Website Updates - April 2024
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March 31, 2024 GenomeConnect Participation Statistics - March 2024
This document provides a high-level summary of GenomeConnect's data sharing efforts including participation enrollment via GenomeConnect and data sharing partners. These statistics are updated quarterly. The last update was March 31, 2024.