ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.830C>T (p.Pro277Leu)

gnomAD frequency: 0.14668  dbSNP: rs63750417
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
Preventiongenetics, part of Exact Sciences RCV000254223 SCV000306675 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001510735 SCV001717843 benign Frontotemporal dementia 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000084582 SCV001887671 benign not provided 2018-08-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30679340, 23222517)
VIB Department of Molecular Genetics, University of Antwerp RCV000084582 SCV000116718 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000254223 SCV001808311 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000254223 SCV001918599 benign not specified no assertion criteria provided 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.