ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.5594T>C (p.Leu1865Pro)

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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 RCV001004715 SCV001164180 pathogenic Developmental and epileptic encephalopathy, 13 2017-11-13 criteria provided, single submitter clinical testing

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