ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val)

dbSNP: rs573057228
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152950 SCV000202382 uncertain significance not provided 2014-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000152950 SCV001087771 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275570 SCV001460819 likely benign Usher syndrome type 1 2020-04-27 no assertion criteria provided clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815225 SCV005071499 uncertain significance Retinal dystrophy 2022-01-01 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.