ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2193G>C (p.Thr731=)

dbSNP: rs397517315
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, Mass General Brigham Personalized Medicine RCV000039122 SCV000062804 likely benign not specified 2016-06-28 criteria provided, single submitter clinical testing p.Thr731Thr in exon 21 of CDH23: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and it has been identified in 0.4% (51/11414) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs397517315).
Labcorp Genetics (formerly Invitae), Labcorp RCV000909993 SCV001054834 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000909993 SCV001804949 likely benign not provided 2021-10-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831657 SCV002085539 likely benign Usher syndrome type 1 2019-12-12 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004534823 SCV004742278 likely benign CDH23-related disorder 2019-11-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.