ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) (rs41281330)

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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 RCV000039191 SCV000062875 benign not specified 2010-07-27 criteria provided, single submitter clinical testing Val1620Met in exon 39 of CDH23: This variant is not expected to have clinical si gnificance due to its occurrence at a similar frequency in the general populatio n and it has been reported as presumed non-pathogenic (Astuto 2002, Oshima 2008, Ouyang 2005). In addition, this variant is listed in dbSNP (rs41281330 - no fre quency data).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039191 SCV000114030 benign not specified 2013-11-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000991776 SCV001143511 benign not provided 2018-11-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000039191 SCV001157027 benign not specified 2019-01-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001104196 SCV001261039 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 RCV001106972 SCV001264091 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). 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.

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