ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) (rs200200869)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563418 SCV000675376 benign Hereditary cancer-predisposing syndrome 2016-06-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Other data supporting benign classification,Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Co-occurence with mutation in same gene (phase unknown)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000193910 SCV000339180 likely benign not specified 2016-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000193910 SCV000169098 benign not specified 2013-09-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000193910 SCV000249204 uncertain significance not specified 2015-05-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000055007 SCV000478173 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296323 SCV000478174 likely benign Focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000234681 SCV000284723 benign Tuberous sclerosis 1 2018-01-05 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000055007 SCV000083225 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.