ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) (rs187327463)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127997 SCV000171587 benign not specified 2014-02-10 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 RCV001085099 SCV000289939 benign Early infantile epileptic encephalopathy with suppression bursts 2020-12-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713154 SCV000843733 benign not provided 2017-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717226 SCV000848075 likely benign History of neurodevelopmental disorder 2016-10-12 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000127997 SCV000858975 likely benign not specified 2018-01-16 criteria provided, single submitter clinical testing
Mendelics RCV000988847 SCV001138736 likely benign Early infantile epileptic encephalopathy 13 2019-05-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000127997 SCV001742116 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000713154 SCV001955888 likely benign not provided no assertion criteria provided clinical testing

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