ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.1463G>A (p.Trp488Ter)

dbSNP: rs1984233764
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290661 SCV002579085 likely pathogenic Developmental and epileptic encephalopathy, 26 2022-05-20 criteria provided, single submitter clinical testing
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades RCV001249558 SCV001423133 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2019-12-01 no assertion criteria provided clinical testing

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