ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5368G>A (p.Val1790Met) (rs200140994)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088019 SCV000544571 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000485554 SCV000572874 likely benign not specified 2017-12-27 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 RCV000567483 SCV000675594 likely benign Hereditary cancer-predisposing syndrome 2019-03-18 criteria provided, single submitter clinical testing Other strong data supporting benign classification;In silico models in agreement (benign)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034664 SCV000043547 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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