ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.6136C>T (p.Arg2046Trp)

dbSNP: rs1400178483
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262678 SCV001440629 uncertain significance Intellectual disability, autosomal dominant 13 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV003156333 SCV003845561 likely pathogenic not provided 2023-03-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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