ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) (rs45486591)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000034644 SCV000225803 uncertain significance not provided 2015-04-13 criteria provided, single submitter clinical testing
Invitae RCV000229351 SCV000285237 benign Tuberous sclerosis 2 2017-11-30 criteria provided, single submitter clinical testing
GeneDx RCV000259184 SCV000518054 likely benign not specified 2016-01-14 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.
Ambry Genetics RCV000569820 SCV000675540 likely benign Hereditary cancer-predisposing syndrome 2018-01-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,Does not segregate with disease in family study (genes with incomplete penetrance),In silico models in agreement (benign)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034644 SCV000043527 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Tuberous sclerosis database (TSC2) RCV000054865 SCV000066197 not provided Tuberous sclerosis syndrome no assertion provided curation

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