ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.1248C>A (p.Phe416Leu)

dbSNP: rs1569017015
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades RCV000782165 SCV000920629 pathogenic Epileptic encephalopathy 2019-03-01 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV003224879 SCV003920926 pathogenic Developmental and epileptic encephalopathy, 26 2022-10-09 criteria provided, single submitter clinical testing

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