ClinVar Miner

Submissions for variant NM_001080517.1:r.627_810del

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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 RCV001526634 SCV001737065 pathogenic Global developmental delay criteria provided, single submitter clinical testing

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