ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5479C>A (p.Arg1827=)

dbSNP: rs142748621
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001556962 SCV001778641 uncertain significance not provided 2024-06-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this variant does not alter splicing
Labcorp Genetics (formerly Invitae), Labcorp RCV001556962 SCV003483626 likely benign not provided 2025-01-18 criteria provided, single submitter clinical testing

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