ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.1890+16G>A

gnomAD frequency: 0.40039  dbSNP: rs1507994
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001723863 SCV005302700 benign not provided criteria provided, single submitter not provided
GeneDx RCV001723863 SCV001949777 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520353 SCV001729423 benign Bardet-Biedl syndrome 2026-02-04 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000601162 SCV000744971 benign Bardet-Biedl syndrome 1 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000246850 SCV000316605 benign not specified criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000601162 SCV000734316 benign Bardet-Biedl syndrome 1 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.