ClinVar Miner

Submissions for variant NM_001321075.3(DLG4):c.148dup (p.Tyr50fs)

dbSNP: rs869312859
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210399 SCV000258433 likely pathogenic Cerebral visual impairment and intellectual disability 2015-09-09 criteria provided, single submitter research This study shows that diverse genetic causes underlie CVI.
Institute of Human Genetics, University of Leipzig Medical Center RCV001004848 SCV002044321 pathogenic Intellectual developmental disorder 62 2021-12-21 criteria provided, single submitter research
Tumer Group, Copenhagen University Hospital, Rigshospitalet RCV001004848 SCV003915477 pathogenic Intellectual developmental disorder 62 2023-02-28 criteria provided, single submitter research
OMIM RCV001004848 SCV001164324 pathogenic Intellectual developmental disorder 62 2020-12-11 no assertion criteria provided literature only

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