ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4620C>T (p.Asn1540=) (rs111033490)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039187 SCV000062871 likely benign not specified 2009-12-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724264 SCV000229914 uncertain significance not provided 2014-08-28 criteria provided, single submitter clinical testing
Invitae RCV000724264 SCV001660780 likely benign not provided 2020-10-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272898 SCV001455322 likely benign Usher syndrome type 1 2020-09-16 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.