ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4989C>T (p.Ile1663=) (rs373347369)

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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 RCV000716735 SCV000847578 likely benign History of neurodevelopmental disorder 2016-08-16 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 RCV000430392 SCV000518113 benign not specified 2015-09-10 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 RCV000346154 SCV000417454 likely benign Benign familial neonatal-infantile seizures 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407545 SCV000417455 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000457053 SCV000562144 benign Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2017-08-24 criteria provided, single submitter clinical testing

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