ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) (rs145662546)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716897 SCV000847742 likely benign History of neurodevelopmental disorder 2016-09-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175358 SCV000226831 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000175358 SCV000171507 benign not specified 2013-04-18 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 RCV000335788 SCV000417434 likely benign Benign familial neonatal-infantile seizures 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393615 SCV000417435 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000233798 SCV000290576 benign Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2018-01-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000175358 SCV000313738 benign not specified criteria provided, single submitter clinical testing

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