ClinVar Miner

Submissions for variant NM_001321075.3(DLG4):c.1486C>T (p.Arg496Ter)

dbSNP: rs2142828228
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780935 SCV002024086 likely pathogenic not provided 2021-06-24 criteria provided, single submitter clinical testing
Tumer Group, Copenhagen University Hospital, Rigshospitalet RCV003163924 SCV003915498 pathogenic Intellectual developmental disorder 62 2023-02-28 criteria provided, single submitter research
Institute of Human Genetics, University of Leipzig Medical Center RCV003163924 SCV004100764 pathogenic Intellectual developmental disorder 62 2023-10-09 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS2_MOD,PS4,PM2_SUP
GeneDx RCV001780935 SCV005439349 pathogenic not provided 2024-06-10 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35982160, 33004838, 38135915)

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