ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.2134G>A (p.Ala712Thr) (rs113745835)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221031 SCV000270651 likely benign not specified 2015-07-21 criteria provided, single submitter clinical testing p.Ala712Thr in exon 18 of OTOG: This variant is not expected to have clinical si gnificance because it has been identified in 1.6% (15/918) of African chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs113745835).
GeneDx RCV000221031 SCV000725930 likely benign not specified 2018-01-12 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.
Invitae RCV000881491 SCV001024669 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000881491 SCV001144836 benign not provided 2018-11-12 criteria provided, single submitter clinical testing

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