ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp) (rs45517295)

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
Ambry Genetics RCV000163429 SCV000213975 likely benign Hereditary cancer-predisposing syndrome 2017-10-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,Subpopulation frequency in support of benign classification
GeneDx RCV000122223 SCV000243580 benign not specified 2017-06-14 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.
Invitae RCV000233956 SCV000285350 benign Tuberous sclerosis 2 2017-12-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000043019 SCV000395628 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043019 SCV000066817 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122223 SCV000086444 not provided not specified 2013-09-19 no assertion provided reference population

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.