ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.2963C>G (p.Thr988Ser)

gnomAD frequency: 0.28431  dbSNP: rs2305830
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 RCV000253896 SCV000312271 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001511536 SCV001718805 benign Nephronophthisis 15 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001511536 SCV001806597 benign Nephronophthisis 15 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001597015 SCV001830765 benign not provided 2020-05-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001597015 SCV005232260 benign not provided criteria provided, single submitter not provided

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.