ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1163T>C (p.Leu388Pro) (rs377598226)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567359 SCV000675368 likely benign Hereditary cancer-predisposing syndrome 2018-04-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Other data supporting benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734481 SCV000862627 uncertain significance not provided 2018-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000430852 SCV000514993 likely benign not specified 2017-12-06 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 RCV000471960 SCV000552299 likely benign Tuberous sclerosis 1 2018-01-09 criteria provided, single submitter clinical testing

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