ClinVar Miner

Variants studied for Rubinstein-Taybi syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
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
371 138 692 980 466 10 2548

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CREBBP 267 94 383 589 226 5 1492
EP300 80 39 278 359 218 3 946
EP300, LOC126863158 7 3 19 22 15 0 64
CREBBP, LOC130058357 3 1 6 3 1 0 12
EP300, LOC130067530 1 0 2 6 3 0 12
CREBBP, LOC130058353 2 0 2 1 3 0 7
CREBBP, TRAP1 2 1 0 0 0 0 3
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NPIPA5, RRN3 0 0 0 0 0 2 2
ADCY9, CREBBP, GLIS2, SRL, TFAP4 1 0 1 0 0 0 2
CREBBP, LOC130058357, LOC130058358 2 0 0 0 0 0 2
ADCY9, ALG1, ANKS3, C16orf89, C16orf90, C16orf96, CDIP1, CLUAP1, CORO7, CORO7-PAM16, CREBBP, DNAAF8, DNAJA3, DNASE1, EEF2KMT, GLIS2, GLYR1, HMOX2, MEFV, MGRN1, MTRNR2L4, NAA60, NAGPA, NLRC3, NMRAL1, NUDT16L1, OR2C1, PAM16, PPL, ROGDI, SEC14L5, SEPTIN12, SLX4, SMIM22, SRL, TFAP4, TIGD7, TRAP1, UBALD1, UBN1, VASN, ZNF174, ZNF263, ZNF500, ZNF597, ZNF75A, ZSCAN32 0 0 1 0 0 0 1
ADCY9, ANKS3, C16orf96, CDIP1, CORO7, CORO7-PAM16, CREBBP, DNAAF8, DNAJA3, GLIS2, HMOX2, LINC01569, LINC02861, LOC105371062, LOC112441450, LOC113939951, LOC121530613, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, LOC125146391, LOC129390755, LOC129390756, LOC130058353, LOC130058354, LOC130058355, LOC130058356, LOC130058357, LOC130058358, LOC130058359, LOC130058360, LOC130058361, LOC130058362, LOC130058363, LOC130058364, LOC130058365, LOC130058366, LOC130058367, LOC130058368, LOC130058369, LOC130058370, LOC130058371, LOC130058372, LOC130058373, LOC130058374, LOC130058375, LOC130058376, LOC130058377, LOC130058378, MGRN1, MIR6769A, NMRAL1, NUDT16L1, PAM16, ROGDI, SEPTIN12, SMIM22, SRL, TFAP4, UBALD1, VASN, ZNF500 1 0 0 0 0 0 1
C16orf90, CLUAP1, CREBBP, DNASE1, MEFV, MTRNR2L4, NAA60, NLRC3, OR2C1, SLX4, TIGD7, TRAP1, ZNF174, ZNF263, ZNF597, ZNF75A, ZSCAN32 1 0 0 0 0 0 1
CREBBP, LOC125146381, LOC125146382, LOC130058353, LOC130058354, LOC130058355, LOC130058356, LOC130058357, LOC130058358 1 0 0 0 0 0 1
CREBBP, LOC130058353, LOC130058354, LOC130058355 1 0 0 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

Submitter and significance breakdown #

Total submitters: 89
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 151 22 524 926 464 0 2087
Wessex Regional Genetics Laboratory, Salisbury District Hospital 90 20 8 0 0 0 118
Fulgent Genetics, Fulgent Genetics 3 1 41 63 6 0 114
Genetic Services Laboratory, University of Chicago 59 14 16 0 0 0 89
Illumina Laboratory Services, Illumina 2 2 27 5 1 0 37
Baylor Genetics 6 6 16 0 0 0 28
3billion 6 14 4 0 0 0 24
Mendelics 4 4 4 7 1 0 20
OMIM 17 0 0 0 0 0 17
New York Genome Center 0 1 16 0 0 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 7 2 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 0 4 7 2 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 9 1 0 0 12
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 6 3 0 0 0 10
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 7 0 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 7 1 0 0 9
Center for Molecular Medicine, Children’s Hospital of Fudan University 8 0 0 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 3 5 0 0 0 8
Fundacion Rioja Salud, Center for Biomedical Research (CIBIR) 7 0 0 0 0 0 7
Daryl Scott Lab, Baylor College of Medicine 6 0 1 0 0 0 7
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 5 0 0 0 0 6
Centogene AG - the Rare Disease Company 2 3 1 0 0 0 6
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 5 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 4 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 4 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
MGZ Medical Genetics Center 2 0 2 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 0 0 1 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 3 0 0 0 0 4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 4 0 0 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 4 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 2 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 2 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 0 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 0 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 1 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 2 0 1 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 3 0 0 0 0 0 3
Autoinflammatory diseases unit, CHU de Montpellier 2 1 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 1 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 1 0 0 0 2
Costain lab, The Hospital for Sick Children 0 0 0 0 0 2 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 0 2
Laboratory of Medical Genetics, University of Torino 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 0 0 0 0 0 2
Suma Genomics 1 0 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 1 1 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 0 1 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 0 1 0 0 0 1
Institute of Human Genetics, University of Ulm 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 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 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
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 1 0 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 0 1 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Pediatric Endocrinology Clinic, Ege University School of Medicine 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 1

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