ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3779+1G>A

dbSNP: rs587783483
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145739 SCV000192862 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2013-02-26 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000145739 SCV000265547 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2014-12-09 criteria provided, single submitter research
GeneDx RCV000255068 SCV000321524 pathogenic not provided 2023-04-26 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27165009, 31515782, 32827181)
Diagnostic Laboratory, Strasbourg University Hospital RCV001260696 SCV001437788 pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV000145739 SCV002072617 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2022-01-27 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, University of Torino RCV000145739 SCV002760098 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2022-11-29 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002498664 SCV002813878 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2022-02-07 criteria provided, single submitter clinical testing
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000145739 SCV000999446 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2019-11-05 no assertion criteria provided clinical testing

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