ClinVar Miner

Submissions for variant NM_005618.4(DLL1):c.152del (p.Pro51fs)

dbSNP: rs1783805590
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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 RCV001261968 SCV001439325 pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 2020-08-25 criteria provided, single submitter clinical testing

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