Helpful genomics tools & resources for the community.

ClinGen's Curation Tools

Gene-Disease Validity Tools

ClinGen's Gene-Disease Clinical Validity tools support evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.

Curations Interface
Variant Pathogenicity Tools

Variant Pathogenicity Tools utilized for sequence variant interpretation within a evidence-based framework.

Curations Interface
Dosage Sensitivity Tools

The ClinGen Dosage Sensitivity tools aid the curation process that collects evidence supporting/refuting the haploinsufficiency and triplosensitivity of genes and genomic regions

Curations
Clinical Actionability Tools

Clinical Actionability tools support the curation process is to identify those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known.

Curations Interface

Additional Curation Resources

Allele Registry

Provides unique allele identifiers

Website
Evidence Repository

Expert curated interpretations for variants' pathogenicity.

Curations
Pathogenicity Calculator

Enter ACMG-AMP evidence tags to generate classifications

Website
Structural Variation Database Search

Search our database of thousands of structural variation cases

Website
ClinVar Miner

Tool for exploring ClinVar data at different levels of granularity

Website
Genomic Websites & OpenInfoButton Resources

A comprehensive list of genomics resources outside of ClinGen and information about how to utilize Open InfoButton.

About

For Laboratories & Clinicians

Laboratory & Clinician Data Sharing Resources

How to share variant interpretations and supporting observations from your laboratory or clinic with ClinVar.

Website
Variant Interpretation Discrepancy Resolution Module

A module towards Part IV Practice Improvement for clinical laboratory geneticists.

Clinical Laboratories Meeting Minimum Requirements for Data Sharing to Support Quality Assurance

View list of clinical labs who meet a minimum standard of data sharing

About
Clinical Broad Data Sharing Consent Resources

Consent template for broad data sharing

About
Patient Registries Data Sharing List

ClinGen considers the sharing of variant interpretations essential for supporting genomic medicine and a critical part of quality assurance for accurate genetic and genomic testing.

About
ClinGen Volunteer Survey

Interested in volunteering for curation efforts, take our survey! Please tell us more about your interests, expertise, and desired level of involvement so we can pair you with an appropriate curation activity and/or Expert Panel.

Website
CADRe (Consent & Disclosure Recommendations)

The CADRe model provides support for genetic testing consent and disclosure discussions with the aim of improving access to genetic information while meeting patients’ psychosocial and informational needs.

About

For Patients & Groups

Patient Registries Data Sharing List

ClinGen considers the sharing of variant interpretations essential for supporting genomic medicine and a critical part of quality assurance for accurate genetic and genomic testing.

About
Patient Data Sharing Program

Learn about the process for patients and patient groups to share data through GenomeConnect and other tools.

Website
CADRe (Consent & Disclosure Recommendations)

The CADRe model provides support for genetic testing consent and disclosure discussions with the aim of improving access to genetic information while meeting patients’ psychosocial and informational needs.

About

News & Media

ClinGen YouTube Channel

Where you can stay up to date with webinars, presentations, training videos, and other video resources developed or shared by ClinGen.

Website
ClinGen Twitter Feed

@ClinGenResource - Where you can stay up to date with what is going on at ClinGen and also track what we find interesting.

Website

Training & Education

Part IV Practice Improvement

Learn about a module towards Part IV Practive Improvement for clinical laboratory geneticists.

About