ClinVar Miner

Variants in gene CREBBP

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
253 107 196 173 75 30 749

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Rubinstein-Taybi syndrome 1 164 58 56 12 1 1 286
not provided 37 25 100 65 18 0 234
Rubinstein-Taybi syndrome 45 8 17 17 44 0 131
History of neurodevelopmental disorder 0 1 7 70 27 0 105
not specified 0 0 6 34 55 30 105
Inborn genetic diseases 8 4 6 0 0 0 18
Intellectual disability 3 2 2 7 0 0 14
Menke-Hennekam syndrome 1 5 2 5 0 0 0 12
See cases 6 3 0 0 0 0 9
Adenocarcinoma of stomach 0 4 0 0 0 0 4
Adenoid cystic carcinoma 0 4 0 0 0 0 4
Glioblastoma 0 4 0 0 0 0 4
Hepatocellular carcinoma 0 4 0 0 0 0 4
Malignant melanoma of skin 0 4 0 0 0 0 4
Medulloblastoma 0 4 0 0 0 0 4
Neoplasm of the large intestine 0 4 0 0 0 0 4
Neoplasm of uterine cervix 0 4 0 0 0 0 4
Squamous cell carcinoma of the head and neck 0 4 0 0 0 0 4
Squamous cell lung carcinoma 0 4 0 0 0 0 4
Transitional cell carcinoma of the bladder 0 4 0 0 0 0 4
Rare genetic intellectual disability 0 2 0 0 0 0 2
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 0 1 0 0 0 0 1
Autistic disorder of childhood onset; Corpus callosum, agenesis of; Hypertrichosis; Broad thumb; Delayed speech and language development 1 0 0 0 0 0 1
Global developmental delay; Scoliosis 0 1 0 0 0 0 1
Global developmental delay; Seizures 0 0 1 0 0 0 1
Hirschsprung disease 1 0 0 1 0 0 0 1
Kabuki-like syndrome 0 1 0 0 0 0 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 1
Multiple myeloma 0 1 0 0 0 0 1
Neurodevelopmental abnormality 0 0 0 1 0 0 1
Seizures; Intellectual disability 0 0 1 0 0 0 1
Thumb deformity (disease); Glaucoma 0 1 0 0 0 0 1
Thumb deformity (disease); Spasticity; Synophrys; Thin vermilion border; Morphological abnormality of the central nervous system; Spinal dysraphism 0 1 0 0 0 0 1
Toe walking 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 58 9 25 73 57 0 222
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 8 1 69 11 48 0 137
Genetic Services Laboratory, University of Chicago 57 14 14 14 25 0 124
Ambry Genetics 8 5 13 70 27 0 123
Wessex Regional Genetics Laboratory,Salisbury District Hospital 77 18 7 0 0 0 102
GeneDx 22 15 10 8 4 0 59
ITMI 0 0 0 0 0 30 30
CeGaT Praxis fuer Humangenetik Tuebingen 4 2 14 6 0 0 26
PreventionGenetics, PreventionGenetics 0 0 0 4 12 0 16
Baylor Genetics 2 2 10 0 0 0 14
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 3 9 1 0 0 14
OMIM 13 0 0 0 0 0 13
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 2 7 0 0 11
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 1 0 2 5 0 9
New York Genome Center 0 1 7 0 0 0 8
Mendelics 1 1 1 3 1 0 7
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 7 0 0 0 0 0 7
Gharavi Laboratory,Columbia University 0 2 4 0 0 0 6
Service de Génétique Moléculaire,Hôpital Robert Debré 0 2 0 3 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 4 0 0 0 0 5
Diagnostic Laboratory, Strasbourg University Hospital 3 2 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 1 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 2 1 1 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 0 2 0 4
Illumina Clinical Services Laboratory,Illumina 0 1 3 0 0 0 4
Database of Curated Mutations (DoCM) 0 4 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
ISCA site 1 2 1 0 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 1 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 2 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 2 0 0 0 0 3
Autoinflammatory diseases unit,CHU de Montpellier 2 1 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 2 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 0 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 0 1
Department of Genetics, Reproduction and Fetal Medicine.,Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 1 0 0 0 1
Clinical Genomics Laboratory,Laboratory for Precision Diagnostics, University of Washington 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 1 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 1
Medical Genetics Laboratory,CHRU Nancy 1 0 0 0 0 0 1
Pediatric Endocrinology Clinic,Ege University School of Medicine 0 1 0 0 0 0 1
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 0 0 1 0 0 0 1

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