ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) (rs144800506)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514455 SCV000610512 uncertain significance not provided 2017-04-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000514455 SCV000227732 uncertain significance not provided 2014-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000514455 SCV000983866 likely benign not provided 2018-04-20 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041492 SCV000065187 likely benign not specified 2017-07-20 criteria provided, single submitter clinical testing p.Arg792Gln in exon 20 of OTOF: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (111/21722) of African chromos omes including 2 homozygotes by the Genome Aggregation Database (gnomAD, http:// gnomad.broadinstitute.org; dbSNP rs144800506).

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