ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5161-28_5161-25del

dbSNP: rs1799758
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
GeneDx RCV001567415 SCV001791093 likely benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043212 SCV000066412 not provided Tuberous sclerosis syndrome 2011-04-06 no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000043212 SCV000067013 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.