ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1536G>A (p.Thr512=)

gnomAD frequency: 0.00003  dbSNP: rs56128491
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001463093 SCV001667026 likely benign not provided 2024-11-25 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001698512 SCV001916996 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001463093 SCV001971810 likely benign not provided 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.