ClinVar Miner

Submissions for variant NC_000009.11:g.(?_131382516)_(131393966_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV002286877 SCV002576804 pathogenic Developmental and epileptic encephalopathy, 5 criteria provided, single submitter clinical testing

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