ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.8512C>T (p.Arg2838Cys) (rs191662816)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000202763 SCV000257886 uncertain significance not specified 2015-07-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000202763 SCV000270693 likely benign not specified 2015-04-24 criteria provided, single submitter clinical testing p.Arg2838Cys in exon 54 of OTOG: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (20/5018) of European chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs191662816).

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