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, seven principal investigators and over 2,300 contributors from more than 67 countries. Below are a series of recent updates that ClinGen has been working on.
Curating the Clinical Genome 2024
This year's Curating the Clinical Genome conference is May 9-10 in Baltimore, MD.
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.
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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