ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.781C>T (p.Arg261Trp) (rs45517130)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234140 SCV000285476 benign Tuberous sclerosis 2 2018-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571475 SCV000675589 likely benign Hereditary cancer-predisposing syndrome 2016-04-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s)
GeneDx RCV000841881 SCV000983872 likely benign not provided 2018-04-24 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.
Tuberous sclerosis database (TSC2) RCV000042646 SCV000066441 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055120 SCV000083338 not provided Lymphangiomyomatosis no assertion provided curation

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