ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) (rs188098974)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000585571 SCV000228262 uncertain significance not provided 2015-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000039135 SCV000569279 likely benign not specified 2017-11-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585571 SCV000692685 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Invitae RCV000585571 SCV001045360 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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 Clinical Services Laboratory,Illumina RCV001106482 SCV001263555 uncertain significance Deafness, autosomal recessive 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.

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