ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5193-3del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003442287 SCV004169763 uncertain significance not provided 2023-05-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV003442287 SCV004475634 likely benign not provided 2023-06-23 criteria provided, single submitter clinical testing

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