ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.510C>T (p.Phe170=)

gnomAD frequency: 0.00004  dbSNP: rs747488464
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
Invitae RCV002545975 SCV001090433 likely benign Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2023-09-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832174 SCV002093229 likely benign Cystinosis 2020-02-22 no assertion criteria provided 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.