ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=) (rs150209984)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127927 SCV000171513 benign not specified 2013-12-02 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.
Illumina Clinical Services Laboratory,Illumina RCV000315709 SCV000417448 uncertain significance Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379616 SCV000417449 uncertain significance Benign familial neonatal-infantile seizures 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000640652 SCV000762247 likely benign Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2017-08-27 criteria provided, single submitter clinical testing

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