ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8404A>G (p.Ile2802Val) (rs766924822)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000214370 SCV000271572 uncertain significance not specified 2015-07-06 criteria provided, single submitter clinical testing The p.Ile2802Val variant in CDH23 has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 1/6540 of Euro pean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadins titute.org). Computational prediction tools and conservation analysis do not pro vide strong support for or against an impact to the protein. In summary, the cli nical significance of the p.Ile2802Val variant is uncertain.

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.