ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3927C>T (p.Thr1309=)

gnomAD frequency: 0.01922  dbSNP: rs115051850
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000250933 SCV000312276 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000543808 SCV000652470 benign Nephronophthisis 15 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001651203 SCV001864638 benign not provided 2021-05-04 criteria provided, single submitter 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.