ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4435A>G (p.Ile1479Val)

dbSNP: rs796053217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000239737 SCV000596984 pathogenic Developmental and epileptic encephalopathy, 13 2015-08-10 criteria provided, single submitter clinical testing
GeneReviews RCV000239737 SCV000298204 not provided Developmental and epileptic encephalopathy, 13 no assertion provided literature only

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