ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2215-80T>C

gnomAD frequency: 0.00268  dbSNP: rs143141993
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041485 SCV000065180 benign not specified 2016-06-09 criteria provided, single submitter clinical testing p.Leu22Pro in exon 1A of OTOF: This variant is not expected to have clinical sig nificance because it has been identified in 0.5% (130/28336) of European chromos omes by the Exome Aggregation Consortium (http://exac.broadinstitute.org/; dbSNP rs143141993).
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000041485 SCV000258277 likely benign not specified 2015-07-17 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731859 SCV000859715 uncertain significance not provided 2018-02-16 criteria provided, single submitter clinical testing
GeneDx RCV000731859 SCV000982986 likely benign not provided 2018-03-26 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000731859 SCV001159906 likely benign not provided 2022-10-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000731859 SCV004140958 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing OTOF: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003934972 SCV004751572 likely benign OTOF-related condition 2022-11-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.