ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) (rs117217073)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000118280 SCV000171586 benign not specified 2013-11-25 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 RCV000226089 SCV000289938 benign Early infantile epileptic encephalopathy with suppression bursts 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118280 SCV000312084 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000715696 SCV000846527 benign History of neurodevelopmental disorder 2016-05-06 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics Inc RCV000992912 SCV001145509 benign not provided 2019-04-08 criteria provided, single submitter clinical testing
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001089736 SCV001245223 uncertain significance Early infantile epileptic encephalopathy 13 2020-02-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118280 SCV000152652 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.

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