ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2932C>G (p.Leu978Val) (rs397514859)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724068 SCV000227887 uncertain significance not provided 2014-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000724068 SCV000515002 benign not provided 2019-02-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23514105, 22161988, 24714658)
Invitae RCV001081160 SCV000641604 likely benign Tuberous sclerosis 1 2020-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719280 SCV000850146 likely benign History of neurodevelopmental disorder 2018-07-27 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown);In silico models in agreement (benign);Intact protein function observed in appropriate functional assay(s)
Tuberous sclerosis database (TSC1) RCV000055001 SCV000083219 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.