ClinVar Miner

Variants studied for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
103 60 423 554 280 3 1401

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EP300 96 52 392 513 259 3 1295
EP300, LOC126863158 4 7 27 30 17 0 83
EP300, LOC130067530 1 0 3 11 4 0 19
ACO2, ADSL, APOBEC3A, APOBEC3B, APOBEC3C, APOBEC3D, APOBEC3F, APOBEC3G, APOBEC3H, ATF4, CACNA1I, CBX7, CHADL, DNAJB7, ENTHD1, EP300, GRAP2, L3MBTL2, MCHR1, MGAT3, MIEF1, MRTFA, PDGFB, PHF5A, RANGAP1, RBX1, RPL3, RPS19BP1, SACK1F, SGSM3, SLC25A17, SNORD139, SNORD43, SNORD83A, SNORD83B, ST13, SYNGR1, TAB1, TEF, TNRC6B, TOB2, XPNPEP3, ZC3H7B 0 0 1 0 0 0 1
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
PANK2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 43 9 373 550 279 0 1254
3billion 7 10 4 0 0 0 21
Wessex Regional Genetics Laboratory, Salisbury District Hospital 13 2 1 0 0 0 16
Baylor Genetics 3 2 6 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 2 5 0 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 1 1 6 1 0 0 9
OMIM 9 0 0 0 0 0 9
Genetic Services Laboratory, University of Chicago 2 0 6 0 0 0 8
Fundacion Rioja Salud, Center for Biomedical Research (CIBIR) 7 0 0 0 0 0 7
CENTOGENE GmbH and LLC - Guiding Precision Medicine 2 3 1 0 0 0 6
Daryl Scott Lab, Baylor College of Medicine 3 1 2 0 0 0 6
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 4 0 0 0 0 6
Genome-Nilou Lab 0 0 0 0 5 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 4 0 0 0 5
New York Genome Center 0 0 5 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 1 1 0 0 0 4
Gansu Provincial Maternity and Child Care Hospital 1 3 0 0 0 0 4
MVZ Martinsried, Medicover Genetics 1 2 1 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 3
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 1 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 2 0 1 0 0 0 3
Illumina Laboratory Services, Illumina 1 0 2 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 3
MVZ Medizinische Genetik Mainz 0 0 3 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 0 1 1 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 2 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 1 0 0 2
Costain lab, The Hospital for Sick Children 0 0 0 0 0 2 2
Department of Medical Genetics, Hunan Children's Hospital 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
OLLIN Analises Genomicas, OLLIN 0 0 2 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Bicknell laboratory, University of Otago 1 0 0 0 0 0 1
Center for Human Genetics, University of Leuven 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique 0 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 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
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
ITMI 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 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 Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 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
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 1 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1

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