ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.5242C>T (p.Arg1748Cys) (rs1555471394)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622375 SCV000742693 uncertain significance Inborn genetic diseases 2017-07-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
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

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