ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7873-2A>T

dbSNP: rs727502933
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, Mass General Brigham Personalized Medicine RCV000150322 SCV000197412 pathogenic Rare genetic deafness 2013-08-29 criteria provided, single submitter clinical testing The 7873-2A>T variant in CDH23 has not been reported in individuals with hearing loss and is absent in large population studies. This variant occurs in the inva riant region (+/- 1/2) of the splice consensus sequence and is predicted to caus e altered splicing leading to an abnormal or absent protein. In summary, this va riant meets our criteria to be classified as pathogenic (http://pcpgm.partners.o rg/LMM).

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.