ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) (rs147321712)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727471 SCV000708823 uncertain significance not provided 2017-05-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155254 SCV000204940 likely benign not specified 2017-12-14 criteria provided, single submitter clinical testing p.Arg1495Arg in Exon 36 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, and has been identified in 0.05% (65/126702) o f African American chromosomes by the Genome Aggregation Database (gnomAD, http: //gnomad.broadinstitute.org/; dbSNP rs147321712).

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