ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)

gnomAD frequency: 0.00113  dbSNP: rs199990883
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081061 SCV000112968 benign not specified 2014-04-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145767 SCV000192895 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations 2013-02-08 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000081061 SCV000257959 benign not specified 2015-06-05 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224624 SCV000281584 benign not provided 2015-12-21 criteria provided, single submitter clinical testing
Invitae RCV001085724 SCV000754213 benign Rubinstein-Taybi syndrome 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311611 SCV000846039 likely benign Inborn genetic diseases 2018-01-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000224624 SCV000892451 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CREBBP: PP2, BP4, BS1
GeneDx RCV000224624 SCV001888925 benign not provided 2019-10-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23891399, 27884173, 22591219)
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV000081061 SCV001984302 benign not specified 2020-03-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003982877 SCV004796146 benign CREBBP-related disorder 2019-05-04 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000224624 SCV002034967 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224624 SCV002036852 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000224624 SCV002038171 likely benign not provided no assertion criteria provided clinical testing

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