ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.222C>G (p.Ser74Arg)

gnomAD frequency: 0.00001  dbSNP: rs764474318
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001960809 SCV002245183 likely benign not provided 2024-09-19 criteria provided, single submitter clinical testing
GeneDx RCV001960809 SCV004168112 uncertain significance not provided 2023-10-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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