ClinVar Miner

Submissions for variant NM_001321075.3(DLG4):c.1201G>T (p.Glu401Ter)

dbSNP: rs2069778929
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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 RCV001172111 SCV001335060 pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001799738 SCV002044349 pathogenic Intellectual developmental disorder 62 2021-12-21 criteria provided, single submitter research
Tumer Group, Copenhagen University Hospital, Rigshospitalet RCV001799738 SCV003915490 pathogenic Intellectual developmental disorder 62 2023-02-28 criteria provided, single submitter research

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