ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.339C>T (p.Cys113=)

gnomAD frequency: 0.00123  dbSNP: rs139098225
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593524 SCV000706031 uncertain significance not provided 2017-02-21 criteria provided, single submitter clinical testing
GeneDx RCV000593524 SCV001818875 likely benign not provided 2020-07-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000593524 SCV002409574 benign not provided 2024-01-24 criteria provided, single submitter clinical testing

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