ClinVar Miner

Submissions for variant NM_004974.4(KCNA2):c.1223T>C (p.Val408Ala)

dbSNP: rs1570752696
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824855 SCV000965756 pathogenic Developmental and epileptic encephalopathy, 32 2014-01-01 criteria provided, single submitter clinical testing

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