ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe) (rs45478595)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189920 SCV000243583 benign not specified 2016-11-23 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.
Invitae RCV001083121 SCV000285367 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571393 SCV000675466 benign Hereditary cancer-predisposing syndrome 2015-07-23 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034652 SCV000043535 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Tuberous sclerosis database (TSC2) RCV000054868 SCV000067095 not provided Tuberous sclerosis syndrome no assertion provided curation

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