ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.807C>T (p.Gly269=)

gnomAD frequency: 0.00001  dbSNP: rs1297815371
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000545305 SCV000644672 benign Tuberous sclerosis 2 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574665 SCV000675527 likely benign Hereditary cancer-predisposing syndrome 2017-09-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV001569675 SCV001793801 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000545305 SCV002041268 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000574665 SCV002534113 likely benign Hereditary cancer-predisposing syndrome 2020-11-16 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV003999340 SCV004817025 likely benign Tuberous sclerosis syndrome 2024-07-10 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.