ClinVar Miner

Submissions for variant NM_001321075.3(DLG4):c.605del (p.Lys202fs)

dbSNP: rs1064795686
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487154 SCV000571715 pathogenic not provided 2019-09-26 criteria provided, single submitter clinical testing Frameshift 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 in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics, University of Leipzig Medical Center RCV001799667 SCV002044337 pathogenic Intellectual developmental disorder 62 2021-12-21 criteria provided, single submitter research
Tumer Group, Copenhagen University Hospital, Rigshospitalet RCV001799667 SCV003915468 pathogenic Intellectual developmental disorder 62 2023-02-28 criteria provided, single submitter research

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