ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.54C>T (p.Tyr18=)

gnomAD frequency: 0.00024  dbSNP: rs63750811
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000084499 SCV002545944 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing MAPT: BP4, BP7
Invitae RCV002513905 SCV003510217 likely benign Frontotemporal dementia 2022-10-13 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084499 SCV000116635 not provided not provided no assertion provided 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.