ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser) (rs147084515)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189103 SCV000242734 likely benign not specified 2018-01-24 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 RCV000189103 SCV000248818 uncertain significance not specified 2015-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719930 SCV000850802 likely benign History of neurodevelopmental disorder 2018-06-21 criteria provided, single submitter clinical testing Other data supporting benign classification;In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Invitae RCV001083577 SCV001009406 likely benign Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000868109 SCV001145463 likely benign not provided 2018-11-29 criteria provided, single submitter clinical testing

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