ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1639C>G (p.Arg547Gly)

dbSNP: rs796052650
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000211481 SCV000268513 likely pathogenic Seizures, benign familial neonatal, 1 2016-04-12 criteria provided, single submitter clinical testing This de novo mutation in the KCNQ2 is probably the cause of the neonatal epilepsy observed in the patient.

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