ClinVar Miner

Variants in gene CREBBP

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
333 154 828 861 292 37 2157

Condition and significance breakdown #

Total conditions: 45
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Rubinstein-Taybi syndrome 101 16 293 548 225 1 1183
not provided 60 35 331 162 121 2 661
CREBBP-related condition 6 3 94 240 9 0 352
Rubinstein-Taybi syndrome due to CREBBP mutations 174 78 73 13 1 2 333
Inborn genetic diseases 12 5 91 161 34 0 303
not specified 1 1 22 39 58 30 132
Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2 2 36 58 5 2 105
Menke-Hennekam syndrome 1 6 8 19 1 0 0 31
Intellectual disability 3 2 2 7 0 0 14
See cases 4 4 4 0 0 0 12
Tip-toe gait 0 5 0 0 0 0 5
Adenoid cystic carcinoma 0 4 0 0 0 0 4
Gastric adenocarcinoma 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
CREBBP-Related Disorders 2 0 0 0 0 0 2
Neurodevelopmental disorder 1 0 1 0 0 0 2
Rare genetic intellectual disability 0 2 0 0 0 0 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
Atrial septal defect; High palate; Frontal bossing; Thin upper lip vermilion; Pectus carinatum; Generalized hypotonia; Joint laxity; Abnormal cerebral white matter morphology; Downturned corners of mouth; Cerebral white matter atrophy 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
Corpus callosum, agenesis of 1 0 0 0 0 0 1
Global developmental delay 0 0 1 0 0 0 1
Global developmental delay; Scoliosis 0 1 0 0 0 0 1
Global developmental delay; Seizure 0 0 1 0 0 0 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
Menke-Hennekam syndrome 1 0 0 0 0 0 1
Multiple myeloma 0 1 0 0 0 0 1
Neurodevelopmental abnormality 0 0 0 1 0 0 1
Seizure; Intellectual disability 0 0 1 0 0 0 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

Submitter and significance breakdown #

Total submitters: 123
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 103 16 293 565 225 0 1202
GeneDx 39 19 175 80 121 0 434
PreventionGenetics, part of Exact Sciences 6 3 94 243 21 0 367
Ambry Genetics 12 5 91 161 34 0 303
CeGaT Center for Human Genetics Tuebingen 9 3 48 69 14 0 143
Genetic Services Laboratory, University of Chicago 56 13 18 22 30 0 139
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
Fulgent Genetics, Fulgent Genetics 2 1 35 57 5 0 100
Revvity Omics, Revvity 2 2 27 0 0 0 31
ITMI 0 0 0 0 0 30 30
Baylor Genetics 2 4 14 0 0 0 20
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 2 11 1 0 15
New York Genome Center 0 1 14 0 0 0 15
OMIM 13 0 0 0 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 8 2 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 3 8 1 0 0 13
3billion 3 8 2 0 0 0 13
Mendelics 2 1 4 3 1 0 11
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 2 7 0 0 11
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 4 4 0 0 0 10
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 3 7 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 4 2 0 0 9
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 0 2 5 0 9
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 4 3 0 0 0 8
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
Institute of Human Genetics, University of Leipzig Medical Center 1 3 2 1 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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 0 0 6
Illumina Laboratory Services, Illumina 1 2 3 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 4 0 0 0 0 6
Diagnostic Laboratory, Strasbourg University Hospital 4 2 0 0 0 0 6
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
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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 2 0 4
MGZ Medical Genetics Center 2 0 1 1 0 0 4
Database of Curated Mutations (DoCM) 0 4 0 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 1 2 0 4
Daryl Scott Lab, Baylor College of Medicine 4 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 1 2 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 2 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 0 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 3 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 3
Autoinflammatory diseases unit, CHU de Montpellier 2 1 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Quest Diagnostics Nichols Institute San Juan Capistrano 2 0 0 0 0 0 2
Blueprint Genetics 0 1 1 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 1 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 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
Genome Diagnostics Laboratory, Amsterdam University Medical Center 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
Johns Hopkins Genomics, Johns Hopkins University 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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 1 1 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 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
Athena Diagnostics Inc 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 0 1 0 0 1
Hehr Laboratory, Center for Human Genetics 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
Institute of Human Genetics, University of Ulm 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), 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
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
ISCA site 1 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University 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
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
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 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
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 0 1 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 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
Lifecell International Pvt. Ltd 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Al Jawhara Center for Molecular Medicine, Arabian Gulf University 0 0 1 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
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1
Department Of Pathology & Laboratory Medicine, University Of Pennsylvania 1 0 0 0 0 0 1

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