ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.186C>T (p.Pro62=)

gnomAD frequency: 0.00662  dbSNP: rs35194418
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242686 SCV000316604 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000470772 SCV000563611 benign Bardet-Biedl syndrome 2024-01-31 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000709682 SCV000744973 benign Bardet-Biedl syndrome 1 2017-06-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717133 SCV005302710 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000242686 SCV001922888 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.