ClinVar Miner

Variants studied for Rubinstein-Taybi syndrome

Included ClinVar conditions (9):
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
265 88 144 65 89 5 633

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CREBBP 205 63 73 27 45 1 402
EP300 58 25 70 38 44 2 226
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
ADCY9, ANKS3, C16orf96, CDIP1, CORO7, CORO7-PAM16, CREBBP, DNAAF8, DNAJA3, GLIS2, HMOX2, LINC01569, LINC02861, LOC112441450, LOC113939951, MGRN1, MIR6769A, NMRAL1, NUDT16L1, PAM16, ROGDI, SEPTIN12, SMIM22, SRL, TFAP4, UBALD1, VASN, ZNF500 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 78 12 50 48 88 0 276
Wessex Regional Genetics Laboratory,Salisbury District Hospital 90 20 8 0 0 0 118
Genetic Services Laboratory, University of Chicago 59 14 17 0 0 0 90
Illumina Clinical Services Laboratory,Illumina 0 1 25 5 1 0 32
Baylor Genetics 5 4 12 0 0 0 21
Mendelics 3 4 4 7 1 0 18
OMIM 17 0 0 0 0 0 17
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 9 1 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 0 3 5 2 0 0 10
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 7 0 0 0 0 0 7
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 7 0 0 0 0 0 7
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 5 0 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 5 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 4 0 0 0 5
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 4 0 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 0 0 1 0 0 4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 4 0 0 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Genomic Medicine Lab, University of California San Francisco 2 0 1 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 2 0 0 0 0 3
Autoinflammatory diseases unit,CHU de Montpellier 2 1 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 1 0 0 0 2
Daryl Scott Lab,Baylor College of Medicine 1 0 1 0 0 0 2
Costain lab, The Hospital for Sick Children 0 0 0 0 0 2 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 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
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 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 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
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 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
Pediatric Endocrinology Clinic,Ege University School of Medicine 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.