ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2421del (p.Leu808fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service RCV004556161 SCV005045283 pathogenic Tuberous sclerosis syndrome 2024-01-17 criteria provided, single submitter clinical testing PVS1,PM2,PP4

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.