ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly)

gnomAD frequency: 0.00091  dbSNP: rs188098974
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Total submissions: 9
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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 RCV000039135 SCV000062817 benign not specified 2015-02-20 criteria provided, single submitter clinical testing p.Ser944Gly in exon 25 of CDH23: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (55/16450) of South Asian chr omosomes with two homozygotes and in 0.3% (18/6608) of Finnish chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs18 8098971).
Eurofins Ntd Llc (ga) RCV000585571 SCV000228262 uncertain significance not provided 2015-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000585571 SCV000569279 likely benign not provided 2021-01-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18429043, 32707200)
CeGaT Center for Human Genetics Tuebingen RCV000585571 SCV000692685 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CDH23: BP4, BS2
Invitae RCV000585571 SCV001045360 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001106481 SCV001263554 uncertain significance Usher syndrome type 1D 2017-04-28 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.
Illumina Laboratory Services, Illumina RCV001106482 SCV001263555 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2017-04-28 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.
Revvity Omics, Revvity RCV000585571 SCV003831499 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831659 SCV002089812 likely benign Usher syndrome type 1 2020-01-31 no assertion criteria provided clinical testing

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