ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.37C>T (p.Leu13=)

gnomAD frequency: 0.00203  dbSNP: rs76180450
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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 RCV000041534 SCV000065229 benign not specified 2012-05-14 criteria provided, single submitter clinical testing Leu13Leu in Exon 01 of OTOF: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence, and has been identified in 0.8% (31/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs76180450).
Labcorp Genetics (formerly Invitae), Labcorp RCV000964855 SCV001112101 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000964855 SCV001752324 likely benign not provided 2020-08-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000964855 SCV005263206 likely 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.