ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4302C>T (p.Gly1434=) (rs137854000)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231695 SCV000285395 benign Tuberous sclerosis 2 2017-12-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000043166 SCV000395653 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000432048 SCV000515045 benign not specified 2015-04-29 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.
Ambry Genetics RCV000575893 SCV000675584 likely benign Hereditary cancer-predisposing syndrome 2016-03-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000432048 SCV000709002 likely benign not specified 2017-06-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043166 SCV000066965 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.