ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.42G>A (p.Arg14=) (rs6734111)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041541 SCV000065236 benign not specified 2011-11-07 criteria provided, single submitter clinical testing The Arg14Arg variant in OTOF is not expected to have clinical significance becau se it does not alter an amino acid residue, is not located near a splice junctio n, and has been identified in dbSNP in 18/4552 (0.4%) chromosomes from a North A merican population (dbSNP rs6734111).
GeneDx RCV000844315 SCV000986365 likely benign not provided 2018-06-16 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 RCV000844315 SCV001037526 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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