ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.2548G>C (p.Gly850Arg) (rs61734214)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000218557 SCV000269483 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Gly850Arg in exon 20 of OTOG: This variant is not expected to have clinical sign ificance because it has been identified in 6.7% (13/194) of Luhya (Kenyan) chrom osomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.; dbSNP rs61734214).
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000430647 SCV000511363 likely benign not provided 2016-07-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000430647 SCV000968705 benign not provided 2018-06-01 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.

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.