ClinVar Miner

Variants in gene EP300

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
48 22 140 79 42 38 319

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 1 0 81 60 7 0 149
not specified 0 0 2 26 37 34 83
not provided 12 11 34 2 1 0 60
Rubinstein-Taybi syndrome 2 26 7 7 1 0 2 43
Carcinoma of colon; Rubinstein-Taybi syndrome 2 1 0 2 1 14 0 18
Inborn genetic diseases 5 1 5 0 0 0 11
Rubinstein-Taybi syndrome 2; Colorectal cancer 1 0 9 0 0 0 10
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
Abnormality of the thumb; Global developmental delay; Micrognathia; Feeding difficulties; Facial grimacing 0 0 0 1 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; Agenesis of corpus callosum; Epileptic encephalopathy 0 0 1 0 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: 31
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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
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
Invitae 4 0 11 1 14 0 30
GeneDx 10 8 2 1 0 0 21
PreventionGenetics 0 0 0 3 15 0 18
OMIM 13 0 0 0 0 0 13
Ambry Genetics 5 1 5 0 0 0 11
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 7 0 0 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 6 0 0 0 7
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 4 0 0 0 0 5
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
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
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 0 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Mendelics 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology 1 0 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
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
SBielas Lab, Department of Human Genetics,University of Michigan 1 0 0 0 0 0 1

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