ClinVar Miner

Submissions for variant NM_005618.4(DLL1):c.1574dup (p.Ala528fs)

dbSNP: rs2114958269
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814738 SCV002061536 likely pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 2021-04-15 criteria provided, single submitter clinical testing PVS1, PM2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001814738 SCV002102884 likely pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 2020-12-16 criteria provided, single submitter clinical testing

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