ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.7422C>T (p.Phe2474=)

gnomAD frequency: 0.00001  dbSNP: rs983539027
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825219 SCV000966500 likely benign not specified 2019-02-14 criteria provided, single submitter clinical testing The p.Phe2486Phe variant in OTOG is classified as likely benign because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly created splice site. ACMG/AMP Criteria applied: BP4, BP7.

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