ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3679C>A (p.Arg1227=) (rs111033478)

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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 RCV000041528 SCV000065223 likely benign not specified 2009-11-17 criteria provided, single submitter clinical testing p.Arg1227Arg in exon 29 of OTOF: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, has been identified in 37/126068 of European c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit; dbSNP rs111033478).
PreventionGenetics,PreventionGenetics RCV000041528 SCV000316858 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000953172 SCV001099728 likely benign not provided 2018-06-12 criteria provided, single submitter clinical testing

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