ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr)

dbSNP: rs1060499592
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477903 SCV000536830 likely pathogenic Developmental and epileptic encephalopathy, 26 2016-01-15 no assertion criteria provided research
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades RCV001249557 SCV001423132 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2019-12-01 no assertion criteria provided clinical testing
Kearney Laboratory, Northwestern University Feinberg School of Medicine RCV003320442 SCV004024574 not provided not provided no assertion provided in vitro

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