ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8907C>T (p.Arg2969=)

gnomAD frequency: 0.00740  dbSNP: rs11000010
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
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 RCV000039295 SCV000062979 benign not specified 2009-06-12 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000039295 SCV000231859 benign not specified 2014-06-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001103060 SCV001259773 benign Autosomal recessive nonsyndromic hearing loss 12 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001103061 SCV001259774 benign Usher syndrome type 1D 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae RCV001512414 SCV001719838 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001512414 SCV001856198 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276923 SCV001463580 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.