ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) (rs115623439)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000118282 SCV000171588 benign not specified 2013-11-27 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 RCV001083747 SCV000557014 benign Early infantile epileptic encephalopathy with suppression bursts 2020-12-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713155 SCV000843734 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717723 SCV000848581 benign History of neurodevelopmental disorder 2016-03-21 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Synonymous alterations with insufficient evidence to classify as benign
Genetic Services Laboratory, University of Chicago RCV000118282 SCV000152654 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Human Genetics - Radboudumc,Radboudumc RCV000713155 SCV001952308 likely benign not provided no assertion criteria provided clinical testing

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