ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.898-6C>G

gnomAD frequency: 0.00035  dbSNP: rs199687628
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000980012 SCV001127960 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000980012 SCV002056064 uncertain significance not provided 2023-08-22 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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