ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.367del (p.Glu123fs)

dbSNP: rs2145789218
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV001786546 SCV002028376 likely pathogenic Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 2021-11-01 criteria provided, single submitter clinical testing

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