ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln) (rs56054534)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000041522 SCV000717793 likely benign not specified 2017-11-30 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.
GeneReviews RCV000021057 SCV000041712 benign Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041522 SCV000065217 benign not specified 2011-11-02 criteria provided, single submitter clinical testing Arg1157Gln in exon 28 of OTOF: This variant is not expected to have clinical sig nificance because it has been identified in 0.7% (50/6794) of chromosomes from a broad population (dbSNP rs56054534). In addition, this variant has been reporte d in the literature and is not expected to have clinical significance due to an equal occurrence in probands and controls (Smith 2008, Varga 2006).

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