ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5160+2dup

dbSNP: rs397514969
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
GeneDx RCV001574794 SCV001801669 pathogenic not provided 2020-06-17 criteria provided, single submitter clinical testing Observed in a patient with TSC and a pancreatic neuroendocrine tumor in published literature (Bombardieri et al., 2013); Intronic splice site variant in a gene for which loss-of-function is a known mechanism of disease, and both in silico predictors and evolutionary conservation support a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23757617)
Tuberous sclerosis database (TSC2) RCV000055165 SCV000083383 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.