ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) (rs116314622)

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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 RCV000041529 SCV000065224 benign not specified 2012-05-15 criteria provided, single submitter clinical testing Gly123Ser in Exon 05A of OTOF: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (34/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs116314622).
PreventionGenetics,PreventionGenetics RCV000041529 SCV000316859 likely benign not specified 2016-02-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000041529 SCV000884275 likely benign not specified 2019-03-14 criteria provided, single submitter clinical testing
GeneDx RCV000756455 SCV000981139 likely benign not provided 2018-04-09 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000756455 SCV001152197 likely benign not provided 2017-10-01 criteria provided, single submitter clinical testing

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