ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4680C>T (p.Ala1560=) (rs139507276)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164081 SCV000214691 likely benign Hereditary cancer-predisposing syndrome 2014-08-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001081654 SCV000285415 benign Tuberous sclerosis 2 2020-11-26 criteria provided, single submitter clinical testing
GeneDx RCV000713939 SCV000524092 benign not provided 2019-07-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000422276 SCV000597592 likely benign not specified 2015-10-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713939 SCV000844586 benign not provided 2018-03-02 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.