ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2979G>A (p.Thr993=) (rs45517277)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125668 SCV000169130 benign not specified 2013-10-11 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 RCV000163283 SCV000213811 likely benign Hereditary cancer-predisposing syndrome 2014-11-02 criteria provided, single submitter clinical testing
Invitae RCV000203727 SCV000262222 benign Tuberous sclerosis 2 2018-01-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000125668 SCV000305191 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000043038 SCV000395621 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000125668 SCV000855618 likely benign not specified 2017-07-13 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043038 SCV000066837 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.