ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1546T>C (p.Tyr516His)

gnomAD frequency: 0.21570  dbSNP: rs2258689
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246568 SCV000306665 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514001 SCV001721729 benign Frontotemporal dementia 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000084507 SCV001887882 benign not provided 2018-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000084507 SCV005247003 benign not provided criteria provided, single submitter not provided
VIB Department of Molecular Genetics, University of Antwerp RCV000084507 SCV000116643 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000246568 SCV001807110 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000246568 SCV001923771 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000246568 SCV001931704 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000246568 SCV001951357 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.