ClinVar Miner

Variants studied for Rubinstein-Taybi syndrome due to CREBBP mutations

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
287 100 424 606 232 5 1579

Gene and significance breakdown #

Total genes and gene combinations: 13
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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 3 4 31 13 2 0 53
CREBBP, LOC130058357 3 1 6 3 1 0 12
CREBBP, LOC130058353 2 0 2 1 3 0 7
CREBBP, TRAP1 2 1 0 0 0 0 3
EP300, LOC126863158 3 0 0 0 0 0 3
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

Submitter and significance breakdown #

Total submitters: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 112 16 300 552 229 0 1209
Fulgent Genetics, Fulgent Genetics 3 1 41 63 6 0 114
Wessex Regional Genetics Laboratory, Salisbury District Hospital 77 18 7 0 0 0 102
Genetic Services Laboratory, University of Chicago 57 14 10 0 0 0 81
Illumina Laboratory Services, Illumina 1 2 25 5 1 0 34
Mendelics 4 4 4 7 1 0 20
Baylor Genetics 3 4 10 0 0 0 17
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 9 1 0 0 12
3billion 2 8 2 0 0 0 12
New York Genome Center 0 1 10 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 4 2 0 0 9
OMIM 8 0 0 0 0 0 8
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 4 3 0 0 0 8
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 5 0 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 4 1 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 4 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 3 1 1 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 3 0 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 4 0 0 0 0 0 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
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 3 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 1 0 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 0 0 0 0 0 3
Autoinflammatory diseases unit, CHU de Montpellier 2 1 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
MGZ Medical Genetics Center 2 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 0 2
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
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 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
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 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
Laboratory of Medical Genetics, University of Torino 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
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
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
Suma Genomics 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 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
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 1

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