ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4107G>C (p.Arg1369=)

dbSNP: rs201688447
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470982 SCV000556584 benign Tuberous sclerosis 2 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001704568 SCV000714129 likely benign not provided 2021-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021882 SCV001183551 likely benign Hereditary cancer-predisposing syndrome 2019-08-02 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 RCV000470982 SCV002039424 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001021882 SCV002533504 likely benign Hereditary cancer-predisposing syndrome 2021-12-23 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002496807 SCV002795924 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-07-06 criteria provided, single submitter clinical testing

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