ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5364T>C (p.Tyr1788=)

gnomAD frequency: 0.00011  dbSNP: rs367703283
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082783 SCV000285463 benign Tuberous sclerosis 2 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000229648 SCV000527248 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575460 SCV000675567 likely benign Hereditary cancer-predisposing syndrome 2015-08-27 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.
Genome-Nilou Lab RCV001082783 SCV002040293 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000575460 SCV002534062 likely benign Hereditary cancer-predisposing syndrome 2021-12-17 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002500761 SCV002802373 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-01-10 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.