ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.599+1G>A (rs45460895)

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
Tuberous sclerosis database (TSC2) RCV000042637 SCV000066432 not provided Tuberous sclerosis syndrome no assertion provided curation
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000042637 SCV000805047 pathogenic Tuberous sclerosis syndrome 2017-08-07 no assertion criteria provided 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.