ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.391C>G (p.Pro131Ala)

dbSNP: rs777398393
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
Invitae RCV001236083 SCV001408795 benign Tuberous sclerosis 2 2022-12-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462800 SCV004205069 uncertain significance Isolated focal cortical dysplasia type II 2023-06-09 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.