ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.8508T>C (p.Asp2836=) (rs940623349)

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
GeneDx RCV000612998 SCV000726550 likely benign not specified 2018-01-18 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000612998 SCV000966495 likely benign not specified 2018-03-30 criteria provided, single submitter clinical testing p.Asp2836Asp in exon 54 of OTOG: This variant is classified as likely benign bec ause it does not alter an amino acid residue, is not located within the splice c onsensus sequence, and splice prediction algorithms do not predict a newly creat ed splice site. It has been identified in 0.2% (58/23834) of Latino chromosomes by the Genome Aggregation Database (gnomAD,; db SNP rs940623349). ACMG/AMP Criteria applied: BS1_Supporting; BP4; BP7.

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.