ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys)

gnomAD frequency: 0.00001  dbSNP: rs1555471394
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622375 SCV000742693 likely pathogenic Inborn genetic diseases 2017-07-20 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000782092 SCV000920563 pathogenic not provided 2019-02-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000782092 SCV001150784 likely pathogenic not provided 2019-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000782092 SCV001873773 pathogenic not provided 2022-09-19 criteria provided, single submitter clinical testing Not observed 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; This variant is associated with the following publications: (PMID: 27311832)

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