ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3366T>C (p.Arg1122=) (rs778352969)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724868 SCV000332089 uncertain significance not provided 2015-06-15 criteria provided, single submitter clinical testing
Invitae RCV001081872 SCV000556537 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000350513 SCV000730293 likely benign not specified 2018-02-22 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 RCV001020105 SCV001181538 likely benign Hereditary cancer-predisposing syndrome 2015-11-18 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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