ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.1480C>A (p.Pro494Thr)

gnomAD frequency: 0.00703  dbSNP: rs114396665
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 RCV000650290 SCV000772130 benign Nephronophthisis 15 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707399 SCV005232249 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004752980 SCV005352071 benign CEP164-related disorder 2024-08-05 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.