ClinVar Miner

Submissions for variant NM_006579.3(EBP):c.329G>A (p.Arg110Gln)

dbSNP: rs1602090481
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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 Munich, Klinikum Rechts Der Isar, Tu München RCV000995763 SCV001150096 pathogenic Chondrodysplasia punctata 2 X-linked dominant 2020-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001576786 SCV001804041 likely pathogenic not provided 2020-09-16 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: 24036494, 17378690, 22394443, 10391218, 22121851, 11038443)

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