ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) (rs74145660)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039211 SCV000062895 benign not specified 2012-03-22 criteria provided, single submitter clinical testing Asp1806Glu in exon 42 of CDH23: This variant is not expected to have clinical si gnificance due to its occurrence at an equal frequency in cases compared to the general population (Roux 2006, Wagatsuma 2007) and is listed in dbSNP with 10/28 8 (3.5%) frequency (rs74145660).
GeneDx RCV000039211 SCV000167618 benign not specified 2013-05-13 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039211 SCV000230599 benign not specified 2015-05-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000124201 SCV001143513 benign not provided 2018-11-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001104090 SCV001260924 likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Department of Ophthalmology and Visual Sciences Kyoto University RCV000124201 SCV000172633 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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