ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser) (rs137854168)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080839 SCV000285266 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000433224 SCV000518099 likely benign not specified 2015-10-19 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 RCV000576038 SCV000675464 likely benign Hereditary cancer-predisposing syndrome 2018-05-16 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);In silico models in agreement (benign)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000231071 SCV001150699 uncertain significance not provided 2020-06-01 criteria provided, single submitter clinical testing

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