ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=) (rs114315466)

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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 RCV000716203 SCV000847040 benign History of neurodevelopmental disorder 2016-04-15 criteria provided, single submitter clinical testing
GeneDx RCV000118254 SCV000171531 benign not specified 2013-01-15 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 RCV000118254 SCV000152621 benign not specified 2013-04-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351483 SCV000417408 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389675 SCV000417409 likely benign Benign familial neonatal-infantile seizures 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000460588 SCV000562150 benign Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2018-01-08 criteria provided, single submitter clinical testing

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