Registries Meeting Minimum Requirements for Data Sharing with ClinVar

 

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. Open and transparent sharing allows peer-review and knowledge dissemination to ensure the highest quality care of patients.

Here, we identify patient registries who meet a minimum standard of data sharing with ClinVar:

  • Registries that do not reinterpret variants submit variants to ClinVar as Phenotyping Only submissions
  • Registry submits at least once per year adding new variants and updating variants as necessary
  • Registry has attested to submitting at least 75% of all variants submitted to their registry in the last year
  • Registry submits all categories of variants (pathogenic, uncertain, benign, etc.) that are reported on participants genetic testing reports

To apply for status, or to update your status, patient registries can apply here.

Questions about the criteria Contact clingen@clinicalgenome.org.

Patient Registry

Meets requirements

Additional Achievements

Submitted >100 variants

>75% from past 5 years1 Classification updates to participants2 Participant matching mechanism3
Association for Creatine Deficiencies *   * *  
Cardio-Facio-Cutaneous Syndrome (CFC) International  *   * *  
CureCADASIL *   * *  
GenomeConnect

  


Some requirements and additional achievements based on self-reported data by laboratory

*Most recent submission pending ClinVar processing
1 >75% of classified sequence and/or copy number variants from past 5 years submitted
2 Actively provides participants with the option to receive information from the registry about potenital updates to their variant classifications at the reporting laboratory
3 Registry provides participants with the ability to match with others based on genetic information (gene or variant)?