ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.1641C>T (p.Gly547=)

gnomAD frequency: 0.00004  dbSNP: rs535620249
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Total submissions: 2
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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 RCV001195586 SCV001365981 likely benign not specified 2020-03-11 criteria provided, single submitter clinical testing The p.Gly559Gly 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.
Invitae RCV002559240 SCV003511948 likely benign not provided 2022-03-27 criteria provided, single submitter clinical testing

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