ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2932C>G (p.Leu978Val) (rs397514859)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719280 SCV000850146 likely benign History of neurodevelopmental disorder 2015-03-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),In silico models in agreement (benign),Co-occurence with mutation in same gene (phase unknown)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724068 SCV000227887 uncertain significance not provided 2014-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000176260 SCV000515002 likely benign not specified 2017-11-20 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 RCV000547238 SCV000641604 likely benign Tuberous sclerosis 1 2017-10-17 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000055001 SCV000083219 not provided Tuberous sclerosis syndrome no assertion provided curation

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