ClinVar Miner

Variants in gene EP300

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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
71 31 148 135 74 38 421

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 18 11 35 68 55 0 182
Rubinstein-Taybi syndrome 1 3 3 85 61 7 0 159
not specified 0 0 3 26 37 34 84
Rubinstein-Taybi syndrome 2 39 13 8 1 0 2 62
Rubinstein-Taybi syndrome 2; Colorectal cancer 2 0 12 0 0 0 14
Inborn genetic diseases 5 1 5 0 0 0 11
Carcinoma of colon; Rubinstein-Taybi syndrome 2 1 0 1 0 3 0 5
Carcinoma of colon 2 0 0 0 0 0 2
Carcinoma of esophagus 0 2 0 0 0 0 2
Medulloblastoma 0 2 0 0 0 0 2
Menke-Hennekam syndrome 2 2 0 0 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
Uterine cervical neoplasms 0 2 0 0 0 0 2
Abnormal facial shape; Intellectual disability; Postaxial polydactyly 1 0 0 0 0 0 1
Abnormality of the thumb; Global developmental delay; Micrognathia; Feeding difficulties; Facial grimacing 0 0 0 1 0 0 1
Corpus callosum agenesis; Microcephaly; Epileptic encephalopathy 0 0 1 0 0 0 1
Early infantile epileptic encephalopathy 18 0 0 0 0 0 1 1
Intellectual disability 0 0 0 1 0 0 1
Microcephaly; intellectual deficiency 0 1 0 0 0 0 1
Multiple congenital anomalies 0 0 0 0 0 1 1
Rubinstein-Taybi syndrome 0 0 1 0 0 0 1
Short stature; Hirsutism; Myopia; Synophrys; Intellectual disability, moderate; Congenital microcephaly; Muscular hypotonia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 80 60 7 0 147
Invitae 5 0 13 64 58 0 140
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 11 13 0 34
GeneDx 16 8 2 3 0 0 29
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
Mendelics 2 3 4 4 0 0 12
Ambry Genetics 5 1 5 0 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 7 0 0 0 8
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 7 0 0 0 0 0 7
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 4 0 0 0 0 5
Baylor Genetics 1 1 1 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 1 0 3
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 1 0 0 2 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 1 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 3
SickKids Clinical Genetics Group,The Hospital for Sick Children 0 0 0 0 0 3 3
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
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 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
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1

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