ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3156C>T (p.Phe1052=)

gnomAD frequency: 0.00001  dbSNP: rs397517942
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041518 SCV000065213 likely benign not specified 2010-08-19 criteria provided, single submitter clinical testing Phe1052Phe in exon 26 of OTOF: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and it is not located in a known splice site consensus sequence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003556116 SCV004301517 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing

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.