ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.3891A>T (p.Glu1297Asp) (rs121917910)

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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 RCV000717643 SCV000848497 likely benign History of neurodevelopmental disorder 2016-10-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Conflicting evidence
CeGaT Praxis fuer Humangenetik Tuebingen RCV000118242 SCV000892303 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118242 SCV000203498 uncertain significance not provided 2014-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000188828 SCV000242457 likely benign not specified 2018-02-23 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 RCV000118242 SCV000152607 uncertain significance not provided 2012-12-28 criteria provided, single submitter clinical testing
Invitae RCV000636619 SCV000758058 likely benign Early infantile epileptic encephalopathy 2017-11-10 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059407 SCV000090931 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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