ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1723G>A (p.Val575Met) (rs55676840)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041470 SCV000065165 benign not specified 2011-01-09 criteria provided, single submitter clinical testing Val575Met in exon 15 of OTOF: This variant is not expected to have clinical sign ificance because it has been reported as a neutral change (Varga 2006, Smith 200 8), is present in dbSNP (rs55676840 ? 4 entries), adn has been identified in our laboratory in ~3% of patients.
PreventionGenetics,PreventionGenetics RCV000041470 SCV000316846 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000041470 SCV000717967 benign not specified 2017-10-26 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.
Athena Diagnostics Inc RCV000992466 SCV001144807 benign not provided 2019-02-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000021038 SCV001304207 benign Deafness, autosomal recessive 9 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285194 SCV001471587 benign none provided 2020-07-04 criteria provided, single submitter clinical testing
GeneReviews RCV000021038 SCV000041692 benign Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Benign.

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