ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.7268-7T>A

gnomAD frequency: 0.00001  dbSNP: rs911853347
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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) RCV000596136 SCV000704497 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000596136 SCV002346231 likely benign not provided 2024-12-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927914 SCV004740205 likely benign OTOG-related disorder 2024-09-26 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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