ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln)

gnomAD frequency: 0.00014  dbSNP: rs376560330
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039138 SCV000062820 likely benign not specified 2011-03-08 criteria provided, single submitter clinical testing p.Arg964Gln in exon 25 of CDH23: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (24/8460) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs376560330).
Eurofins Ntd Llc (ga) RCV000724091 SCV000228263 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing
Invitae RCV000724091 SCV001031598 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001106485 SCV001263558 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001106486 SCV001263559 uncertain significance 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000724091 SCV001792983 likely benign not provided 2019-12-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32425987, 31054281, 24767429)
PreventionGenetics, part of Exact Sciences RCV003407407 SCV004114912 likely benign CDH23-related condition 2023-12-26 criteria provided, single submitter 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).
Natera, Inc. RCV001271854 SCV001453326 likely benign Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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