ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3431-6A>T (rs377614198)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000221627 SCV000270036 likely benign not specified 2015-05-27 criteria provided, single submitter clinical testing c.3431-6A>T in intron 29 of CDH23: This variant is not expected to have clinical significance because a thymine "T" at this position does not diverge from the s plice consensus sequence and is therefore unlikely to impact splicing. It has be en identified in 5/9778 African chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs377614198).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727019 SCV000704979 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing
Invitae RCV000727019 SCV001066185 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272886 SCV001455309 likely benign Usher syndrome type 1 2020-09-16 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.