ClinVar Miner

Submissions for variant NM_001321075.3(DLG4):c.642G>A (p.Ala214=)

dbSNP: rs2142883774
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001770657 SCV001993913 likely pathogenic not provided 2023-10-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Genetics and Molecular Pathology, SA Pathology RCV002272490 SCV002556594 likely pathogenic Intellectual developmental disorder 62 2021-12-08 criteria provided, single submitter clinical testing
Tumer Group, Copenhagen University Hospital, Rigshospitalet RCV002272490 SCV003915469 pathogenic Intellectual developmental disorder 62 2023-02-28 criteria provided, single submitter research

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