ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala) (rs138497939)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715727 SCV000846558 likely benign History of neurodevelopmental disorder 2017-05-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000192599 SCV000514524 likely benign not specified 2017-10-20 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 RCV000192599 SCV000248819 uncertain significance not specified 2014-12-16 criteria provided, single submitter clinical testing
Invitae RCV000524559 SCV000639637 likely benign Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2017-07-19 criteria provided, single submitter clinical testing

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