ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2879T>A (p.Val960Asp)

dbSNP: rs879255703
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000239747 SCV001428718 pathogenic Developmental and epileptic encephalopathy, 13 2019-07-29 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
GeneReviews RCV000239747 SCV000298196 not provided Developmental and epileptic encephalopathy, 13 no assertion provided literature only

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