ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1143G>A (p.Arg381=) (rs45517155)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234777 SCV000285227 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000246218 SCV000305139 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000246218 SCV000515016 benign not specified 2015-07-24 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 RCV000560947 SCV000675467 likely benign Hereditary cancer-predisposing syndrome 2015-04-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000246218 SCV000855537 likely benign not specified 2017-07-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000234777 SCV001150686 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042928 SCV000066725 not provided Tuberous sclerosis syndrome no assertion provided curation

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