Frequently Asked Questions

  • My laboratory is based outside of the United States. Do I still need to be registered within the Genetic Testing Registry (GTR) to qualify for inclusion?
    • Yes. GTR is the only public, international tracking system that allows us to evaluate test offerings from clinical laboratories. Thus, up-to-date GTR accounts are required so that we can validate clinical laboratories are submitting data to ClinVar from all of their tests. 
    • GTR is not just a US database. There are over 200 international labs registered in the system (https://www.ncbi.nlm.nih.gov/gtr/all/labs/?term=all[sb]).
    • More information about registering in GTR can be found here: https://www.ncbi.nlm.nih.gov/gtr/docs/submit/.  
  • Do the requirements to be on this list pertain to sequence or copy number variants?
    • Clinical laboratories that perform both sequence and structural variant testing are encouraged to submit both types of information to ClinVar.
    • The initial lab list published on July 14, 2017, requires laboratories to attest to submitting at least 75% of all sequence and/or copy number variants reported in the past year.   
    • Starting in July 2018, this requirement will be modified to include any variants the laboratory reports, including sequence and copy number variants. If a clinical laboratory does not meet this requirement in July 2018, they will be removed from the list.If a laboratory only reports sequence variants or only copy number variants they will reach the minimum requirements by submitting 75% of that variant type.
  • What kind of “consenting mechanism” is required to achieve a badge? 
    • We assign ‘consent achievement badges’ to clinical laboratories that have a means for patients to directly consent to share detailed, individual-level clinical data. Examples of this include:
      • Lab-specific patient registries for patients to share data in collaborative research (e.g., Invitae’s Patient Insights Network: www.patientinsightnetwork.com/)
      • Language in clinical reports describing external ways for patients to share their data (e.g., highlighting the existence of direct patient data sharing initiatives like GenomeConnect: www.genomeconnect.org/)
      • Consent mechanism allowing patient to permit laboratory to share individual-level data directly with ClinVar. Template consent resources from ClinGen can be found here: www.clinicalgenome.org/share
    • If you are interested in including GenomeConnect language on your consent forms, sample wording can be found here: https://www.clinicalgenome.org/share-your-data/patients/recruitment-materials/
    • If you have any questions about whether or not you meet this requirement, please contact us.
  • What kind of “discrepancy resolution” efforts are required to achieve a badge?
    • This badge is given to laboratories that attest to “actively engaging in variant interpretation discrepancy resolution activities with other submitters in ClinVar.”
    • An example of discrepancy resolution efforts, performed by four clinical laboratories as a part of ClinGen, is described by Harrison et al. in Genetics in Medicine (PMID: 28301460).
    • The ClinGen Sequence Variant Inter-Laboratory Discrepancy Resolution team, led by Steven Harrison (Laboratory for Molecular Medicine) and Jill Dolinsky (Ambry), is actively working to resolve discrepancies within ClinVar and to identify persistent interpretation differences due to varying application of ACMG/AMP rules.  If you are interested in participating in this group, please reach out to Steven Harrison (sharrison6@partners.org). To participate in discrepancy resolution efforts focused on copy number variants, please contact Erin Riggs (eriggs@geisinger.edu).
  • If my laboratory does not meet requirements now, but does so in the future, how do I get added to the list?  How often do you update this list?
    • We continually update the list of laboratories posted on our website, so a lab can be added at any time. If you have recently completed the survey, and believe you qualify but do not see your lab represented online, please reach out to us at clingen@clinicalgenome.org.
  • Will criteria for inclusion on this list change over time?
    • Yes, criteria may be updated over time.  
    • For example, in July 2018 we anticipate that labs will have to submit at least 75% of variants reported in the last two years, and that the requirement will include both sequence and structural variants. In addition, we anticipate that the provision of evidence will switch from a badge requirement to a primary list requirement in the future as well. Other requirements may also be developed in the future.​
  • Can a lab be removed from the list?
    • Yes, labs will need to fill out the survey each year and will be removed if criteria are not met in the future.
  • Does this list apply to somatic testing?
    • Yes, laboratories performing somatic cancer testing can submit to ClinVar and will be listed if they meet the data sharing criteria.