ClinVar Miner

Submissions for variant NM_021120.4(DLG3):c.1280G>A (p.Arg427His)

gnomAD frequency: 0.00002  dbSNP: rs775293712
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001837051 SCV003834701 uncertain significance Intellectual disability, X-linked 90 2022-09-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV005330926 SCV005990454 likely benign Inborn genetic diseases 2025-01-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital RCV001837051 SCV002097316 benign Intellectual disability, X-linked 90 no assertion criteria provided case-control

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