ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1978G>A (p.Gly660Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795475 SCV005418672 uncertain significance Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 criteria provided, single submitter clinical testing PM2_Supporting+PP2+PP4

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