ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=) (rs367546924)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000726581 SCV000892589 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726581 SCV000701638 uncertain significance not provided 2016-10-04 criteria provided, single submitter clinical testing
GeneDx RCV000127922 SCV000171508 benign not specified 2014-02-25 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.
Invitae RCV000640642 SCV000762236 likely benign Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2018-01-02 criteria provided, single submitter clinical testing

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