ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.510C>T (p.Ser170=) (rs143341423)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039200 SCV000062884 benign not specified 2012-07-23 criteria provided, single submitter clinical testing Ser170Ser in exon 7 of CDH23: This variant has been observed in patients (Nakani shi 2010, Oshima 2008, Wagatsuma 2007) but is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located near a splice junction and has been identified in 1% (21/2100) individuals (dbSNP rs143 341423).
Invitae RCV000899865 SCV001044155 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001103057 SCV001259770 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). 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 Clinical Services Laboratory,Illumina RCV001104970 SCV001261879 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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