ClinVar Miner

Variants in gene EP300

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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
93 47 127 113 74 38 432

Condition and significance breakdown #

Total conditions: 33
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 24 11 42 48 15 0 138
Rubinstein-Taybi syndrome 2; Colorectal cancer 4 1 15 21 44 0 85
not specified 0 0 4 26 38 34 85
Rubinstein-Taybi syndrome 2 42 18 19 4 0 2 82
Rubinstein-Taybi syndrome 1 3 4 25 8 1 0 41
Inborn genetic diseases 8 5 5 0 0 0 18
Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation; Rubinstein-Taybi syndrome 2 15 2 0 0 0 0 17
Intellectual disability 2 0 1 8 0 0 11
Menke-Hennekam syndrome 2 2 1 5 0 0 0 8
Rubinstein-Taybi syndrome 2; Chromosome 3pter-p25 deletion syndrome 0 0 8 0 0 0 8
Rubinstein-Taybi syndrome 2; not provided 0 0 0 7 0 0 7
Rubinstein-Taybi syndrome 1 0 2 0 0 0 3
Carcinoma of colon 2 0 0 0 0 0 2
Carcinoma of colon; Rubinstein-Taybi syndrome 2 1 0 1 0 0 0 2
Carcinoma of esophagus 0 2 0 0 0 0 2
Medulloblastoma 0 2 0 0 0 0 2
Neoplasm of uterine cervix 0 2 0 0 0 0 2
Neurodevelopmental disorder 0 0 2 0 0 0 2
Squamous cell carcinoma of the head and neck 0 2 0 0 0 0 2
Squamous cell lung carcinoma 0 2 0 0 0 0 2
Transitional cell carcinoma of the bladder 0 2 0 0 0 0 2
Abnormal facial shape; Intellectual disability; Postaxial polydactyly 1 0 0 0 0 0 1
CHARGE association 0 1 0 0 0 0 1
Corpus callosum, agenesis of; Microcephaly; Epileptic encephalopathy 0 0 1 0 0 0 1
Early infantile epileptic encephalopathy 18 0 0 0 0 0 1 1
Hereditary breast and ovarian cancer syndrome 0 0 1 0 0 0 1
Microcephaly 1 0 0 0 0 0 1
Microcephaly; intellectual deficiency 0 1 0 0 0 0 1
Multicystic kidney dysplasia 0 0 1 0 0 0 1
Multiple congenital anomalies 0 0 0 0 0 1 1
Rare genetic intellectual disability 0 1 0 0 0 0 1
Short stature; Hirsutism; Myopia (disease); Synophrys; Intellectual disability, moderate; Congenital microcephaly; Muscular hypotonia 0 0 1 0 0 0 1
Thumb deformity (disease); Global developmental delay; Micrognathia; Feeding difficulties; Facial grimacing 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 18 3 24 70 58 0 173
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 1 26 12 27 0 68
ITMI 1 0 0 0 0 34 35
Genetic Services Laboratory, University of Chicago 2 0 8 10 14 0 34
GeneDx 17 8 2 3 0 0 30
Illumina Clinical Services Laboratory,Illumina 0 0 22 5 1 0 28
Ambry Genetics 8 5 5 0 0 0 18
PreventionGenetics, PreventionGenetics 0 0 0 3 15 0 18
Wessex Regional Genetics Laboratory,Salisbury District Hospital 13 2 1 0 0 0 16
OMIM 13 0 0 0 0 0 13
Baylor Genetics 3 2 7 0 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 10 0 0 0 12
Mendelics 2 3 3 4 0 0 11
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 9 0 0 10
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 7 0 0 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 5 1 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 1 4 1 0 0 6
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 4 0 0 0 0 5
Service de Génétique Moléculaire,Hôpital Robert Debré 0 2 0 2 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 2 0 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 2 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 1 0 3
Diagnostic Laboratory, Strasbourg University Hospital 2 0 1 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 3
Costain lab, The Hospital for Sick Children 0 0 0 0 0 3 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 2 0 1 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 1 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 0 0 0 0 2
Daryl Scott Lab,Baylor College of Medicine 1 0 1 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Center for Human Genetics,University of Leuven 0 1 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
SBielas Lab, Department of Human Genetics,University of Michigan 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Autoinflammatory diseases unit,CHU de Montpellier 0 1 0 0 0 0 1
Pediatric Oncology, Johns Hopkins University 0 0 1 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Molecular Oncology Research Center,Barretos Cancer Hospital 0 0 1 0 0 0 1

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