ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10573C>T (p.Arg3525Cys)

dbSNP: rs869312693
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000209943 SCV000265574 pathogenic Intellectual disability, autosomal dominant 13 2015-06-02 criteria provided, single submitter research
GeneDx RCV000657853 SCV000779610 pathogenic not provided 2020-04-29 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28554332)

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