ClinVar Miner

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

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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 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).
GeneDx RCV000953173 SCV000717793 benign not provided 2018-07-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20230791, 16371502, 27766948)
Invitae RCV000953173 SCV001099729 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000021057 SCV001296763 uncertain significance 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneReviews RCV000021057 SCV000041712 benign Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Benign.

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