ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.681C>T (p.Cys227=) (rs45443205)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427770 SCV000515010 benign not specified 2015-08-07 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 RCV000462850 SCV000556497 benign Tuberous sclerosis 2 2017-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571297 SCV000675526 benign Hereditary cancer-predisposing syndrome 2016-01-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727275 SCV000707167 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043158 SCV000066957 not provided Tuberous sclerosis syndrome no assertion provided curation

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