ClinGen Tools & Resources

Key ClinGen resources supporting our goal of building a genomic knowledge base to improve patient care.

GenomeConnect

GenomeConnect

Learn more and enroll in GenomeConnect, ClinGen's patient portal. Learn more
Actionability Evidence-Based Summaries

Actionability Evidence-Based Summaries

These summaries provide information on gene-condition pairs that meet a clinical actionability threshold for pathologic variants in the gene, and are prepared using a transparent, systematic, evidence-based process. Learn more
ClinGen Curated Genes & Diseases

ClinGen Curated Genes & Diseases

Comprehensive list of genes and diseases that have been curated by ClinGen's working groups. Learn more
Structural Variation Database Search

Structural Variation Database Search

Search our database of thousands of structural variation cases originally submitted to the ISCA Database. Learn more

Stay Up To Date

@ClinGenResource On Twitter

RT @NCBI_Clinical: #ClinVar has >1400 variants from Children's Hospital of Philadelphia – check them out: ncbi.nlm.nih.gov/clinvar/submit… - 2 weeks ago
RT @NCBI_Clinical: UW Dept of Laboratory Medicine has >900 submissions in ClinVar - take a look: ncbi.nlm.nih.gov/clinvar/submit… - 2 weeks ago
RT @NCBI_Clinical: @CHEOhospital has >950 submissions in ClinVar - take a look: ncbi.nlm.nih.gov/clinvar/submit… - 3 weeks ago
RT @NCBI_Clinical: New in #ClinVar: variant interpretations from @QuestDX: ncbi.nlm.nih.gov/clinvar/submit… - 3 weeks ago

In The News