ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) (rs56332208)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041593 SCV000065288 benign not specified 2011-09-12 criteria provided, single submitter clinical testing Arg33Gln in exon 2 of OTOF: This variant has been reported in one study after id entification in a single hearing loss proband (Romanos 2006). However, this vari ant is not expected to have clinical significance because it is present in the d bSNP database (rs56332208) with a frequency of 6.8% (8/118 chromosomes) in the Y RI HapMap population and 1.1% (34/3098) in the ESP North American cohort.
PreventionGenetics,PreventionGenetics RCV000041593 SCV000316875 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000041593 SCV000618269 likely benign not specified 2018-03-05 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 RCV000883062 SCV001026337 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000883062 SCV001144829 benign not provided 2018-08-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001139475 SCV001299631 uncertain significance Deafness, autosomal recessive 9 2017-04-28 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.

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