ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2331T>C (p.His777=) (rs139963953)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118701 SCV000153116 likely benign not specified 2013-12-31 criteria provided, single submitter clinical testing
Invitae RCV000228368 SCV000285288 benign not provided 2018-12-14 criteria provided, single submitter clinical testing
GeneDx RCV000118701 SCV000515031 benign not specified 2015-05-11 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 RCV000570561 SCV000675572 likely benign Hereditary cancer-predisposing syndrome 2016-10-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign),Co-occurence with mutation in same gene (phase unknown)

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