ClinVar Miner

Variants in gene CREBBP

Minimum submission review status: Collection method:
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Gene type:
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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
209 82 145 158 74 30 620

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Rubinstein-Taybi syndrome 1 159 48 34 6 10 1 254
not provided 30 23 93 73 48 0 254
History of neurodevelopmental disorder 0 1 10 69 25 0 105
not specified 0 0 6 34 55 30 105
Rubinstein-Taybi syndrome 11 1 3 0 0 0 15
Inborn genetic diseases 6 1 5 0 0 0 12
See cases 6 1 0 0 0 0 7
Menke-Hennekam syndrome 1 5 0 0 0 0 0 5
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
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
Uterine cervical neoplasms 0 4 0 0 0 0 4
Abnormality of the thumb; Glaucoma 0 1 0 0 0 0 1
Abnormality of the thumb; Spasticity; Synophrys; Thin vermilion border; Morphological abnormality of the central nervous system; Spinal dysraphism 0 1 0 0 0 0 1
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
Global developmental delay; Scoliosis 0 1 0 0 0 0 1
Hirschsprung disease 1 0 0 1 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

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 26 5 11 73 56 0 171
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 6 2 15 69 25 0 117
Wessex Regional Genetics Laboratory,Salisbury District Hospital 77 18 7 0 0 0 102
GeneDx 21 15 10 8 4 0 58
ITMI 0 0 0 0 0 30 30
PreventionGenetics,PreventionGenetics 0 0 0 4 12 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 11 2 0 0 15
OMIM 13 0 0 0 0 0 13
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 1 0 2 5 0 9
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 2 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 3 0 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 1 0 0 0 3
Baylor Genetics 0 2 0 0 0 0 2
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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 1 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics,University Hospital Bonn 2 0 0 0 0 0 2
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
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
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 Cytogenomics Laboratory,Center for Precision Diagnostics, University of Washington 1 0 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
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
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1

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