ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3225C>T (p.Thr1075=)

gnomAD frequency: 0.00210  dbSNP: rs144421639
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001081490 SCV001021029 benign Nephronophthisis 15 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000878169 SCV001148464 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001081490 SCV002806005 likely benign Nephronophthisis 15 2021-09-28 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.