ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.2461dup (p.Asp821fs)

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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 RCV004018027 SCV004847197 pathogenic Bohring-Opitz syndrome 2023-07-14 criteria provided, single submitter clinical testing

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