ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.932C>G (p.Ser311Cys)

gnomAD frequency: 0.00001  dbSNP: rs1475672414
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819530 SCV000960195 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
GeneDx RCV001766732 SCV001989349 uncertain significance not provided 2020-07-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000819530 SCV002040580 uncertain significance Tuberous sclerosis 2 2021-11-07 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.