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
131 59 131 99 56 30 451

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Rubinstein-Taybi syndrome 1 91 29 27 6 12 1 164
not provided 30 21 89 4 5 0 148
History of neurodevelopmental disorder 0 1 10 69 25 0 105
not specified 0 0 6 34 55 30 105
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

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
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
GeneDx 21 15 10 7 4 0 57
Invitae 15 5 9 6 12 0 47
ITMI 0 0 0 0 0 30 30
PreventionGenetics 0 0 0 4 12 0 16
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 7 2 0 0 9
The Molecular Genetic Diagnosis Center,Children’s Hospital of Fudan University 8 1 0 0 0 0 9
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
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
HudsonAlpha Institute for Biotechnology 1 2 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
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
Baylor Miraca Genetics Laboratories, 0 1 0 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, Inc. 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 1 0 0 0 0 1

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