ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) (rs200603552)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487823 SCV000575243 uncertain significance not provided 2016-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000193145 SCV000514523 benign not specified 2015-08-22 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.
Genetic Services Laboratory, University of Chicago RCV000193145 SCV000248817 uncertain significance not specified 2015-07-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298626 SCV000417462 uncertain significance Benign familial neonatal-infantile seizures 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353531 SCV000417463 uncertain significance Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000640643 SCV000762237 likely benign Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2017-10-19 criteria provided, single submitter clinical testing

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