ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.8031C>T (p.Cys2677=) (rs200809116)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000595395 SCV000707549 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825217 SCV000966497 likely benign not specified 2018-08-01 criteria provided, single submitter clinical testing The p.Cys2677Cys 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 s equence, and splice prediction algorithms do not predict a newly created splice site. It has also been identified in 5/66326 of European chromosomes by the Geno me Aggregation Database (gnomAD, and is repor ted in ClinVar (Variation ID: 501256). ACMG/AMP Criteria applied: BP4, BP7, PM2_ Supporting.

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