ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2425C>T (p.Gln809Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004690 SCV001164150 pathogenic Seizures, benign familial neonatal, 1 2017-07-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005029566 SCV005660944 likely pathogenic Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 2024-01-17 criteria provided, single submitter clinical testing

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