ClinVar Miner

Variants studied for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

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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
83 36 265 372 234 3 975

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EP300 76 33 246 344 216 3 902
EP300, LOC126863158 4 3 17 22 15 0 59
EP300, LOC130067530 1 0 2 6 3 0 12
DNAJB7, EP300, MCHR1, RBX1, SLC25A17, ST13, XPNPEP3 1 0 0 0 0 0 1
EP300, LOC130067528, LOC130067529, LOC130067530 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 36 5 223 369 233 0 866
Wessex Regional Genetics Laboratory, Salisbury District Hospital 13 2 1 0 0 0 16
3billion 4 6 2 0 0 0 12
Baylor Genetics 3 2 6 0 0 0 11
OMIM 9 0 0 0 0 0 9
Genetic Services Laboratory, University of Chicago 2 0 6 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 0 1 6 1 0 0 8
Fundacion Rioja Salud, Center for Biomedical Research (CIBIR) 7 0 0 0 0 0 7
Centogene AG - the Rare Disease Company 2 3 1 0 0 0 6
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 4 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 3 0 0 0 5
New York Genome Center 0 0 5 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Illumina Laboratory Services, Illumina 1 0 2 0 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 2 0 0 3
Daryl Scott Lab, Baylor College of Medicine 2 0 1 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 2 0 1 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 3 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 1 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 1 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 0 0 0 0 2
Costain lab, The Hospital for Sick Children 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
ITMI 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
Bicknell laboratory, University of Otago 1 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1

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