ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.