ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu) (rs377123510)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189926 SCV000243591 likely benign not specified 2018-02-12 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 RCV001082119 SCV000544465 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567838 SCV000675491 likely benign Hereditary cancer-predisposing syndrome 2018-09-11 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;In silico models in agreement (benign)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000471216 SCV001150716 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing

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