ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5094C>T (p.Ser1698=)

dbSNP: rs45514196
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125698 SCV000169162 benign not specified 2014-04-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000458161 SCV000556505 benign Tuberous sclerosis 2 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023527 SCV001185425 likely benign Hereditary cancer-predisposing syndrome 2015-10-16 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.
Genome-Nilou Lab RCV000458161 SCV002039902 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812059 SCV002048781 likely benign not provided 2021-09-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000125698 SCV002071656 likely benign not specified 2021-11-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001023527 SCV002534014 benign Hereditary cancer-predisposing syndrome 2020-09-25 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV003997438 SCV004824048 benign Tuberous sclerosis syndrome 2023-12-13 criteria provided, single submitter clinical testing

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