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 firstname.lastname@example.org.
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|
|Cure GM1 Foundation|
|Global Gastric Cancer Registry|
*Most recent submission pending ClinVar processing
Some requirements and additional achievements based on self-reported data by laboratory:
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)?