ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) (rs60637)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000118287 SCV000312088 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000118287 SCV000338929 benign not specified 2016-01-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713157 SCV000843736 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715358 SCV000846187 benign History of neurodevelopmental disorder 2015-12-31 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.
Invitae RCV001509965 SCV001716884 benign Early infantile epileptic encephalopathy with suppression bursts 2020-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000713157 SCV001891175 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118287 SCV000152659 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000118287 SCV001742033 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000118287 SCV001927686 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000118287 SCV001956639 benign not specified no assertion criteria provided clinical testing

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