ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val) (rs138231868)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000153886 SCV000171472 benign not specified 2014-04-03 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153886 SCV000203497 benign not specified 2014-02-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000153886 SCV000307036 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000457065 SCV000559691 likely benign Early infantile epileptic encephalopathy with suppression bursts 2020-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720289 SCV000851166 likely benign History of neurodevelopmental disorder 2018-02-05 criteria provided, single submitter clinical testing In silico models in agreement (benign);Insufficient evidence;Subpopulation frequency in support of benign classification

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