ClinVar Miner

Submissions for variant NM_001321075.3(DLG4):c.1866+2T>C

dbSNP: rs2142821543
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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 RCV001706938 SCV001934533 pathogenic Intellectual developmental disorder 62 2020-09-21 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
Tumer Group, Copenhagen University Hospital, Rigshospitalet RCV001706938 SCV003915518 likely pathogenic Intellectual developmental disorder 62 2023-02-28 criteria provided, single submitter research

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