ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.5489G>A (p.Arg1830Gln) (rs1567263168)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735305 SCV000854458 likely pathogenic Atrial septal defect; High palate; Frontal bossing; Thin upper lip vermilion; Pectus carinatum; Generalized hypotonia; Joint laxity; Abnormality of the cerebral white matter; Downturned corners of mouth; Cerebral white matter atrophy criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000782063 SCV000920532 pathogenic not provided 2018-11-09 criteria provided, single submitter clinical testing

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