ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4512C>G (p.Thr1504=)

gnomAD frequency: 0.00075  dbSNP: rs562273075
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, Mass General Brigham Personalized Medicine RCV000156512 SCV000206231 likely benign not specified 2014-05-02 criteria provided, single submitter clinical testing Thr1504Thr in exon 37 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000156512 SCV000602956 likely benign not specified 2017-02-16 criteria provided, single submitter clinical testing
GeneDx RCV000906912 SCV000714484 likely benign not provided 2021-10-27 criteria provided, single submitter clinical testing
Invitae RCV000906912 SCV001051580 likely benign not provided 2024-01-31 criteria provided, single submitter 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.