ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) (rs61746568)

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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 RCV000041459 SCV000065154 benign not specified 2011-09-17 criteria provided, single submitter clinical testing Arg49Trp in exon 3 of OTOF: This variant is not expected to have clinical signif icance due to an equal occurrence in Chinese proband chromosomes 2/146 (1.4%) an d ethnically matched control chromosomes 4/184 (2.2%) (Wang 2010).
PreventionGenetics,PreventionGenetics RCV000041459 SCV000316844 benign not specified 2016-02-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041459 SCV000702805 benign not specified 2016-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000041459 SCV000714451 benign not specified 2018-01-18 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.
Invitae RCV000959820 SCV001106753 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000959820 SCV001144805 benign not provided 2019-07-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001139474 SCV001299630 likely 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). 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.

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