ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.553-5A>C

gnomAD frequency: 0.00051  dbSNP: rs544620018
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 RCV000866701 SCV001007833 likely benign Jeune thoracic dystrophy; Nephronophthisis 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001731958 SCV001982325 likely benign not provided 2021-04-27 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.