ClinVar Miner

Submissions for variant NM_001198903.1:c.998_1293del

Minimum review status: Collection method:
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ClinVar version:
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 RCV001526595 SCV001737024 pathogenic Intellectual disability criteria provided, single submitter clinical testing

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