ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5553G>C (p.Leu1851=)

gnomAD frequency: 0.00001  dbSNP: rs747844017
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002265480 SCV002547209 uncertain significance not provided 2022-01-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Identified without a second variant in a patient with auditory neuropathy in published literature (Romanos et al., 2009); This variant is associated with the following publications: (PMID: 19461658)
Labcorp Genetics (formerly Invitae), Labcorp RCV002265480 SCV004632820 likely benign not provided 2024-02-22 criteria provided, single submitter clinical testing

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