ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=) (rs148424455)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720387 SCV000851264 likely benign History of neurodevelopmental disorder 2016-09-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000429248 SCV000514525 benign not specified 2015-06-25 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 RCV000268544 SCV000417464 likely benign Benign familial neonatal-infantile seizures 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323589 SCV000417465 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000467202 SCV000562151 likely benign Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2017-05-16 criteria provided, single submitter clinical testing

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