ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1976C>T (p.Ala659Val) (rs118203609)

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 RCV000469663 SCV000552256 benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570911 SCV000675403 likely benign Hereditary cancer-predisposing syndrome 2017-07-07 criteria provided, single submitter clinical testing In silico models in agreement (benign);Intact protein function observed in appropriate functional assay(s)
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002541 SCV001160505 likely benign not specified 2019-05-14 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042113 SCV000065898 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.