ClinVar Miner

Submissions for variant NM_014191.4(SCN8A):c.5472C>A (p.Pro1824=) (rs60637)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715358 SCV000846187 benign History of neurodevelopmental disorder 2015-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713157 SCV000843736 benign not provided 2018-05-07 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
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.
Illumina Clinical Services Laboratory,Illumina RCV000268450 SCV000379750 benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118287 SCV000312088 benign not specified criteria provided, single submitter clinical testing

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