ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.-197GAGCGGC[5]

dbSNP: rs527578984
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
Illumina Laboratory Services, Illumina RCV000394220 SCV000363514 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV004529486 SCV000363515 uncertain significance CDH23-related disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV004577756 SCV000363516 uncertain significance Hearing loss, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001731576 SCV001982679 benign not provided 2021-10-18 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.