ClinVar Miner

Submissions for variant NM_000548.4(TSC2):c.4911G>A (p.Lys1637=) (rs35282988)

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
Ambry Genetics RCV000163430 SCV000213976 likely benign Hereditary cancer-predisposing syndrome 2015-01-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000227843 SCV000677552 benign Tuberous sclerosis 2 2017-05-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000125693 SCV000703134 likely benign not specified 2016-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000125693 SCV000169157 benign not specified 2013-10-31 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 RCV000125693 SCV000597593 uncertain significance not specified 2015-08-19 criteria provided, single submitter clinical testing
Invitae RCV000227843 SCV000285428 benign Tuberous sclerosis 2 2017-12-28 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042591 SCV000066385 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.