ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2215-77T>G

gnomAD frequency: 0.00341  dbSNP: rs76130130
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
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 RCV000041486 SCV000065289 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ile23Ser in Exon 01 of OTOF: This variant is not expected to have clinical signi ficance because it has been identified in 0.5% (22/4104) of European American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs76130130).
Eurofins Ntd Llc (ga) RCV000041486 SCV000333084 benign not specified 2016-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000992469 SCV000718004 benign not provided 2018-08-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000992469 SCV001144811 benign not provided 2019-08-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000992469 SCV002585775 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing OTOF: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000992469 SCV005240860 benign not provided criteria provided, single submitter not provided

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.