ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.8071C>T (p.Arg2691Cys) (rs567966154)

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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 RCV000222452 SCV000270689 benign not specified 2017-06-26 criteria provided, single submitter clinical testing p.Arg2691Cys in exon 50 of OTOG: This variant is not expected to have clinical s ignificance because it has been identified in 1.3% (193/15206) of African chromo somes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.o rg; dbSNP rs567966154).
GeneDx RCV000222452 SCV000725088 likely benign not specified 2017-12-13 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.
Athena Diagnostics Inc RCV000712490 SCV000842992 likely benign not provided 2018-05-25 criteria provided, single submitter clinical testing
Invitae RCV000712490 SCV001024671 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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