ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) (rs41281318)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039170 SCV000062854 benign not specified 2014-01-02 criteria provided, single submitter clinical testing Arg1349Cys in Exon 32A of CDH23: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (40/8420) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs41281318).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039170 SCV000335376 benign not specified 2015-09-22 criteria provided, single submitter clinical testing
Invitae RCV000892452 SCV001036324 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001106789 SCV001263885 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). 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 RCV001106790 SCV001263886 uncertain significance Deafness, autosomal recessive 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.

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