ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4138C>A (p.Gln1380Lys)

dbSNP: rs137854045
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001342767 SCV001536714 benign Tuberous sclerosis 2 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001773684 SCV001993012 uncertain significance not provided 2019-06-28 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001342767 SCV002040809 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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