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

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 clinical laboratories who meet a minimum standard of data sharing:

  • Laboratory submissions are registered in ClinVar as ‘Single Submitter, Assertion criteria provided’ (single star)
  • Laboratory registered in the Genetic Test Registry (GTR) with up-to-date yearly review
  • Laboratory submits at least once per year adding new variants and updating reclassified variants as necessary
  • Laboratory submits all categories of variants returned to patients (labs are also encouraged to share B/LB/VUS variants even if not returned)
  • Laboratory has attested to submitting at least 75% of all sequence variants reported in the past year
  • Laboratory has submitted at least 100 variants
  • Laboratory is CLIA certified laboratory (USA) or meets an equivalent standard in another country

To apply for status, or to update your status, laboratories can apply here. For questions contact clingen@clinicalgenome.org.

Laboratory Meets  requirements Additional Achievements
Submitted evidence1 >75% from past 5 years2 Discrepancy resolution3 Consenting mechanism4
Ambry

 
ARUP

*

   
Centre for Mendelian Genomics, University Medical Centre Ljubljana 

   
Counsyl

     
EGL Genetics (Emory)

   
GeneDx

Illumina

   
Invitae

Partners Laboratory for Molecular Medicine

University of Chicago

*

 

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

Most recent submission pending ClinVar posting
1 Majority of submissions have evidence submitted (excludes allele-frequency classified variation)
>75% of classified sequence variants from past 5 years submitted
3 Actively working to resolve interlab interpretation differences
4 Laboratory actively supports use of a consenting mechanism to enable patients to directly consent to share detailed, individual-level clinical data (e.g., an internal patient registry made available for collaborative research, or report language highlighting external registries such as GenomeConnect)