ClinVar Miner

Submissions for variant NM_014191.4(SCN8A):c.641G>A (p.Gly214Asp)

dbSNP: rs879255694
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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268591 SCV001447623 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneReviews RCV000239765 SCV000298183 not provided Developmental and epileptic encephalopathy, 13 no assertion provided literature only

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