ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter) (rs45515894)

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
Institute of Human Genetics,Klinikum rechts der Isar RCV000013216 SCV001149972 pathogenic Tuberous sclerosis 2 2019-04-26 criteria provided, single submitter clinical testing
OMIM RCV000013216 SCV000033463 pathogenic Tuberous sclerosis 2 2009-09-01 no assertion criteria provided literature only
Tuberous sclerosis database (TSC2) RCV000043450 SCV000067258 not provided Tuberous sclerosis syndrome no assertion provided curation

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.