ClinVar Miner

Submissions for variant NM_000548.4(TSC2):c.223G>A (p.Glu75Lys) (rs145470784)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561674 SCV000675507 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
CSER_CC_NCGL; University of Washington Medical Center RCV000148919 SCV000190675 uncertain significance Tuberous sclerosis syndrome 2014-06-01 no assertion criteria provided research
GeneDx RCV000190015 SCV000243687 likely benign not specified 2018-03-06 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 RCV000460205 SCV000544309 benign Tuberous sclerosis 2 2017-11-15 criteria provided, single submitter clinical testing

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.