ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.1712-3C>A

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002466984 SCV002761996 uncertain significance not provided 2022-06-07 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
Labcorp Genetics (formerly Invitae), Labcorp RCV002466984 SCV004558637 likely benign not provided 2023-08-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003926397 SCV004737470 likely benign OTOGL-related disorder 2020-08-31 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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