ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7393C>T (p.Arg2465Trp)

dbSNP: rs760879110
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
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001374886 SCV001572168 uncertain significance Usher syndrome type 1D 2021-04-08 criteria provided, single submitter research The CDH23 c.7393C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PM1. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Genome-Nilou Lab RCV001559226 SCV001781350 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001374886 SCV001781351 uncertain significance Usher syndrome type 1D 2021-07-14 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.