ClinVar Miner

Submissions for variant NM_001321075.3(DLG4):c.787+2T>C

dbSNP: rs2142881946
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001800196 SCV002044338 pathogenic Intellectual developmental disorder 62 2021-12-21 criteria provided, single submitter research
Tumer Group, Copenhagen University Hospital, Rigshospitalet RCV001800196 SCV003915470 likely pathogenic Intellectual developmental disorder 62 2023-02-28 criteria provided, single submitter research

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