ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1446C>A (p.Val482=) (rs200324241)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039102 SCV000062784 likely benign not specified 2014-08-11 criteria provided, single submitter clinical testing Val482Val in Exon 14A of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 2/4254 African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://; dbSNP rs200324241).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726725 SCV000702446 uncertain significance not provided 2016-11-11 criteria provided, single submitter clinical testing
Invitae RCV000726725 SCV001055151 likely benign not provided 2020-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000726725 SCV001768125 likely benign not provided 2021-03-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275926 SCV001461606 likely benign Usher syndrome type 1 2020-04-24 no assertion criteria provided 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.