ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) (rs111033396)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041458 SCV000065153 benign not specified 2015-06-18 criteria provided, single submitter clinical testing p.Glu475Gly in exon 14 of OTOF: This variant is not expected to have clinical si gnificance because it has been identified in 1.7% (192/11548) of Latino chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs111033396).
Illumina Clinical Services Laboratory,Illumina RCV000299695 SCV000429636 uncertain significance Deafness, autosomal recessive 9 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000424874 SCV000510985 likely benign not provided 2016-06-29 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000041458 SCV000604581 likely benign not specified 2017-02-02 criteria provided, single submitter clinical testing
Invitae RCV000424874 SCV001048581 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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