ClinVar Miner

Submissions for variant NM_005618.4(DLL1):c.2013_2014del (p.Glu673fs)

dbSNP: rs1583151308
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001312098 SCV001502546 likely pathogenic not provided 2020-09-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000984543 SCV004027829 pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 2023-05-09 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS2_MOD,PS4_MOD,PM2_SUP
OMIM RCV000984543 SCV001132602 pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 2019-12-20 no assertion criteria provided literature only

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