ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter)

dbSNP: rs1060499676
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000449506 SCV000537755 pathogenic Tuberous sclerosis 2 2016-09-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502593 SCV002810412 likely pathogenic Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-07-06 criteria provided, single submitter 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.