ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1756C>T (p.Gln586Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV005001976 SCV005627558 pathogenic Seizures, benign familial neonatal, 1 2024-12-12 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2

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