ClinVar Miner

Submissions for variant NM_014191.4(SCN8A):c.2632C>T (p.Leu878=) (rs372582842)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716872 SCV000847716 likely benign History of neurodevelopmental disorder 2016-06-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175074 SCV000226502 benign not specified 2015-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000175074 SCV000171585 benign not specified 2014-03-11 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 RCV000470854 SCV000556999 benign Early infantile epileptic encephalopathy 2017-12-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000175074 SCV000312082 benign not specified criteria provided, single submitter clinical testing

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