ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2436C>T (p.Ser812=)

gnomAD frequency: 0.00001  dbSNP: rs767178958
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000225872 SCV000285293 benign Tuberous sclerosis 2 2025-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000248153 SCV000305174 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001697577 SCV000723105 likely benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000225872 SCV002041470 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255327 SCV002531068 likely benign Hereditary cancer-predisposing syndrome 2020-06-25 criteria provided, single submitter curation
Ambry Genetics RCV002255327 SCV002737221 likely benign Hereditary cancer-predisposing syndrome 2015-04-28 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.
All of Us Research Program, National Institutes of Health RCV003998814 SCV004823304 likely benign Tuberous sclerosis syndrome 2024-06-09 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.