ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2378_2391del (p.Val793fs)

dbSNP: rs1555850403
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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 Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000624351 SCV000740291 pathogenic Seizures, benign familial neonatal, 1 2017-11-27 criteria provided, single submitter clinical testing

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