ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.478C>G (p.Leu160Val) (rs45517109)

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
Athena Diagnostics Inc RCV000518124 SCV000615913 likely pathogenic not provided 2017-05-10 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042579 SCV000066373 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.