ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2048_2049del (p.His683fs)

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Total submissions: 1
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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 RCV001004721 SCV001164188 pathogenic Seizures, benign familial neonatal, 1 2017-11-13 criteria provided, single submitter clinical testing

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