ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5364G>A (p.Glu1788=) (rs199925238)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719772 SCV000850642 likely benign History of neurodevelopmental disorder 2017-04-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
GeneDx RCV000429062 SCV000514522 likely benign not specified 2016-04-27 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 RCV000429062 SCV000596964 likely benign not specified 2016-03-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357074 SCV000417460 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262264 SCV000417461 likely benign Benign familial neonatal-infantile seizures 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000640644 SCV000762238 benign Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2017-11-08 criteria provided, single submitter clinical testing

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