ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) (rs141235641)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726555 SCV000345476 uncertain significance not provided 2016-09-12 criteria provided, single submitter clinical testing
GeneDx RCV000041583 SCV000727759 likely benign not specified 2018-02-27 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.
Illumina Clinical Services Laboratory,Illumina RCV000394563 SCV000429589 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041583 SCV000065278 benign not specified 2017-07-05 criteria provided, single submitter clinical testing p.Leu1914Leu in exon 45 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 0.3% (409/126530) o f European chromosomes including 2 homozygotes by the genome Aggregation Databas e (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs141235641).

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