ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.578G>T (p.Arg193Ile) (rs139779680)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179563 SCV000231826 uncertain significance not provided 2015-05-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825798 SCV000967267 likely benign not specified 2018-08-08 criteria provided, single submitter clinical testing The p.Arg193Ile variant in OTOF is classified as likely benign because it has be en identified in 0.4% (95/24028) of African chromosomes by the Genome Aggregatio n Database (gnomAD, ACMG/AMP Criteria applied : BS1.
GeneDx RCV000179563 SCV000980170 likely benign not provided 2018-03-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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