ClinVar Miner

Variants in gene CREBBP

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
392 232 1413 1166 344 95 3105

Condition and significance breakdown #

Total conditions: 69
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Rubinstein-Taybi syndrome 128 18 421 753 276 2 1595
not provided 83 50 473 221 125 2 877
CREBBP-related disorder 12 10 250 386 10 0 668
Inborn genetic diseases 17 7 203 179 34 0 440
Rubinstein-Taybi syndrome due to CREBBP mutations 192 110 95 20 3 2 411
Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 3 6 195 70 5 2 281
not specified 1 1 59 67 60 30 196
Menke-Hennekam syndrome 1 11 14 26 1 0 0 46
Intellectual disability 3 4 5 9 1 0 22
Neoplasm 6 11 3 0 0 0 20
See cases 5 4 6 0 0 0 15
Ovarian serous cystadenocarcinoma 0 0 0 0 0 13 13
Uterine corpus endometrial carcinoma 0 0 0 0 0 9 9
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 8 8
Acute myeloid leukemia 0 1 0 0 0 6 7
Primary central nervous system lymphoma 0 0 6 0 0 0 6
Cervical cancer 0 0 0 0 0 5 5
Gastric cancer 0 0 0 0 0 5 5
Malignant tumor of urinary bladder 0 0 0 0 0 5 5
Tip-toe gait 0 5 0 0 0 0 5
Medulloblastoma WNT activated 0 4 0 0 0 0 4
Familial cancer of breast 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
Autosomal dominant CREBBP-related disorders 0 2 0 0 0 0 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Colorectal cancer 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Neurodevelopmental disorder 1 0 1 0 0 0 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 2
Pilocytic astrocytoma 0 2 0 0 0 0 2
Precursor B-cell acute lymphoblastic leukemia 2 0 0 0 0 0 2
Rare genetic intellectual disability 0 2 0 0 0 0 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Teratoma 0 0 2 0 0 0 2
Abnormal cerebral morphology 1 0 0 0 0 0 1
Abnormality of the nervous system 1 0 0 0 0 0 1
Adamantinous craniopharyngioma 0 1 0 0 0 0 1
Autism; Corpus callosum, agenesis of; Hypertrichosis; Broad thumb; Delayed speech and language development 1 0 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Cone-rod dystrophy 0 1 0 0 0 0 1
Congenital heart anomalies 1 0 0 0 0 0 1
Corpus callosum, agenesis of 1 0 0 0 0 0 1
Embryonal tumor with multilayered rosettes 0 1 0 0 0 0 1
Fetal anomalies with a likely genetic cause 0 0 1 0 0 0 1
Global developmental delay; Scoliosis 0 1 0 0 0 0 1
Hearing impairment 0 0 1 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Hirschsprung disease, susceptibility to, 1 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5; Left ventricular noncompaction 4 0 0 0 0 0 1 1
Kabuki-like syndrome 0 1 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 1 0 0 0 0 0 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 1
Medulloblastoma SHH activated 1 0 0 0 0 0 1
Medulloblastoma non-WNT/non-SHH 0 1 0 0 0 0 1
Menke-Hennekam syndrome 1 0 0 0 0 0 1
Multiple congenital anomalies/dysmorphic syndrome 0 0 0 1 0 0 1
Multiple myeloma 0 1 0 0 0 0 1
Neuroblastoma 0 1 0 0 0 0 1
Neurodevelopmental abnormality 0 0 0 1 0 0 1
Noonan syndrome 1 0 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Parasympathetic paraganglioma 0 1 0 0 0 0 1
Primary ciliary dyskinesia 3 0 0 1 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Thumb deformity; Glaucoma 0 1 0 0 0 0 1
Thumb deformity; Spasticity; Synophrys; Thin vermilion border; Morphological central nervous system abnormality; Spinal dysraphism 0 1 0 0 0 0 1
Thymoma 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 153
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 130 18 417 766 276 0 1607
PreventionGenetics, part of Exact Sciences 9 9 248 389 22 0 677
GeneDx 60 27 298 83 121 0 589
Ambry Genetics 17 7 203 179 34 0 440
Fulgent Genetics, Fulgent Genetics 3 2 190 69 5 0 269
CeGaT Center for Human Genetics Tuebingen 10 3 61 127 9 0 210
Genetic Services Laboratory, University of Chicago 56 13 19 22 30 0 140
Eurofins Ntd Llc (ga) 8 1 67 11 48 0 135
Wessex Regional Genetics Laboratory, Salisbury District Hospital 77 18 7 0 0 0 102
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 1 45 24 0 0 74
Breakthrough Genomics, Breakthrough Genomics 0 1 1 23 40 0 65
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 59 59
Revvity Omics, Revvity 4 7 30 0 0 0 41
ITMI 0 0 0 0 0 30 30
3billion 7 15 7 0 0 0 29
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 12 4 6 4 0 0 26
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 7 11 3 0 0 0 21
Baylor Genetics 2 4 14 0 0 0 20
Neuberg Centre For Genomic Medicine, NCGM 0 6 13 0 0 0 19
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 4 14 0 0 0 0 17
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 2 11 1 0 15
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 5 9 0 15
New York Genome Center 0 1 14 0 0 0 15
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 3 8 1 0 0 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 4 6 2 0 0 13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 4 7 0 0 0 13
OMIM 13 0 0 0 0 0 13
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 3 4 3 1 0 12
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 2 7 0 0 11
Mendelics 2 1 4 3 1 0 11
Institute of Human Genetics, University of Leipzig Medical Center 3 3 3 1 0 0 10
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 7 2 0 10
MVZ Martinsried, Medicover Genetics 1 5 4 0 0 0 10
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 0 2 5 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 1 0 0 9
Center for Molecular Medicine, Children’s Hospital of Fudan University 8 0 0 0 0 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 5 1 0 0 0 8
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 8 0 0 8
Daryl Scott Lab, Baylor College of Medicine 4 2 1 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 5 2 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 6 0 0 0 7
Clinical Genetics Laboratory, Skane University Hospital Lund 3 1 2 0 0 0 6
Diagnostic Laboratory, Strasbourg University Hospital 4 2 0 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 0 0 6
Gharavi Laboratory, Columbia University 0 2 4 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 4 0 0 0 0 6
Illumina Laboratory Services, Illumina 1 2 3 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 3 0 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 2 3 1 0 0 0 6
National Institute of Cancer Research, National Health Research Institutes 0 0 6 0 0 0 6
Institute of Immunology and Genetics Kaiserslautern 2 1 2 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 1 0 0 0 0 5
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 3 1 1 0 0 0 5
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino 0 5 0 0 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 0 2 0 3 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 3 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 1 2 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 2 0 4
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 2 1 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 1 2 0 4
MGZ Medical Genetics Center 2 0 1 1 0 0 4
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 1 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 4
Variantyx, Inc. 0 4 0 0 0 0 4
Autoinflammatory diseases unit, CHU de Montpellier 2 1 0 0 0 0 3
Centre for Medical Genetics, Mumbai 0 0 0 3 0 0 3
Centre of Medical Genetics, University Hospital Muenster 0 0 2 1 0 0 3
Dasa 1 1 1 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 2 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 1 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 0 0 0 0 3
Molecular Genetics Laboratory, Motol Hospital 2 1 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 1 0 0 0 2
Blueprint Genetics 0 1 1 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 1 1 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 1 0 0 0 2
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 1 0 1 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 1 1 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 1 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 1 0 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 2 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 2 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 0 0 0 0 2
Molecular ImmunoRheumatology UMRS_1109, Institut national de la santé et de la recherche médicale 0 0 2 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 2 2
OLLIN Analises Genomicas, OLLIN 0 2 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 1 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 2 0 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Al Jawhara Center for Molecular Medicine, Arabian Gulf University 0 0 1 0 0 0 1
Athena Diagnostics 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 1
Department Of Pathology & Laboratory Medicine, University Of Pennsylvania 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
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 0 1 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
ISCA site 1 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, University of Ulm 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 1 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 1
Medical Genetics Laboratory, Niloo Shiraz Laboratory 0 0 0 0 1 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Ozbek Human Genetics Laboratory, Izmir Biomedicine and Genome Center 0 0 1 0 0 0 1
Pediatric Endocrinology Clinic, Ege University School of Medicine 0 1 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 0 1 0 0 1
Suma Genomics 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1

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