ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5204_5207dup (p.Pro1737fs)

dbSNP: rs397515053
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
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University RCV002266920 SCV002549086 pathogenic Tuberous sclerosis 2 2022-07-17 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055280 SCV000083500 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.