ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3803G>A (p.Arg1268His) (rs200577441)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231146 SCV000285366 benign Tuberous sclerosis 2 2017-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566058 SCV000675548 uncertain significance Hereditary cancer-predisposing syndrome 2016-05-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Tuberous sclerosis database (TSC2) RCV000055239 SCV000083458 not provided Tuberous sclerosis syndrome no assertion provided curation
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761104 SCV000891019 uncertain significance Craniopharyngioma 2016-10-12 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.