ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.8035C>T (p.Arg2679Cys)

gnomAD frequency: 0.00428  dbSNP: rs567966154
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Total submissions: 5
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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 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 RCV000712490 SCV000725088 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712490 SCV000842992 likely benign not provided 2018-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000712490 SCV001024671 benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000712490 SCV005223621 likely benign not provided criteria provided, single submitter not provided

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