ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1423G>A (p.Val475Met) (rs62622410)

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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 RCV000039100 SCV000063502 benign not specified 2013-09-08 criteria provided, single submitter clinical testing Val475Met in Exon 14A of CDH23: This variant is not expected to have clinical si gnificance because it has been identified in 4.1% (173/4270) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs62622410).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000039100 SCV000226163 benign not specified 2015-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000959876 SCV000521015 benign not provided 2018-09-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25262649, 22952768, 30245029)
Invitae RCV000959876 SCV001106814 benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001108435 SCV001265665 likely benign 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001108436 SCV001265666 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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