ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.222G>A (p.Thr74=)

gnomAD frequency: 0.00001  dbSNP: rs768099247
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596281 SCV000708950 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing
Invitae RCV002531104 SCV002934684 likely benign Nephronophthisis 2022-09-24 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.