ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5328C>T (p.Asn1776=)

gnomAD frequency: 0.00003  dbSNP: rs371522191
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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 RCV000825121 SCV000966378 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Asn1776Asn in Exon 41 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 1/3302 African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS).
Invitae RCV000909313 SCV001054111 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273558 SCV001456695 uncertain significance Usher syndrome type 1 2020-04-16 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.