ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1658G>C (p.Arg553Pro)

dbSNP: rs118192234
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678816 SCV000805002 likely pathogenic Seizures, benign familial neonatal, 1 2017-06-20 criteria provided, single submitter clinical testing

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