ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro)

dbSNP: rs1555889108
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Total submissions: 2
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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 RCV000677688 SCV000803832 likely pathogenic Developmental and epileptic encephalopathy, 26 2017-06-26 criteria provided, single submitter clinical testing
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades RCV000782151 SCV000920615 likely pathogenic Epileptic encephalopathy 2019-03-01 criteria provided, single submitter clinical testing

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