ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5187+99T>C

gnomAD frequency: 0.39527  dbSNP: rs10762481
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001533653 SCV001750390 benign Usher syndrome type 1D 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533654 SCV001750391 benign Autosomal recessive nonsyndromic hearing loss 12 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001538973 SCV001756695 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554731 SCV001776028 benign Pituitary adenoma 5, multiple types 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001538973 SCV005321804 benign not provided criteria provided, single submitter not provided

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.