ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7389A>C (p.Gln2463His) (rs145833172)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000614697 SCV000711526 likely benign not specified 2017-11-15 criteria provided, single submitter clinical testing p.Gln2463His in exon 43 of OTOG: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (62/15180) of African chromos omeschromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadi; dbSNP rs145833172).
Invitae RCV000920813 SCV001066192 likely benign not provided 2018-06-19 criteria provided, single submitter clinical testing

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.