ClinVar Miner

Variants studied for Rubinstein-Taybi syndrome

Included ClinVar conditions (5):
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
120 36 127 68 31 3 368

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EP300 29 7 99 62 19 2 203
CREBBP 91 29 27 6 12 1 164
ADCY9, CREBBP, GLIS2, LINC01569, LOC102724927, SRL, TFAP4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 80 60 7 0 147
Genetic Services Laboratory, University of Chicago 59 14 17 0 0 0 90
Invitae 19 5 21 7 26 0 78
OMIM 17 0 0 0 0 0 17
The Molecular Genetic Diagnosis Center,Children’s Hospital of Fudan University 8 1 0 0 0 0 9
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 4 0 0 0 5
HudsonAlpha Institute for Biotechnology 2 2 0 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 0 0 0 0 0 3
Baylor Miraca Genetics Laboratories, 0 1 1 0 0 0 2
Fulgent Genetics 0 0 2 0 0 0 2
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 1 0 0 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 1 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 0 0 0 2
SickKids Clinical Genetics Group,The Hospital for Sick Children 0 0 0 0 0 2 2
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 0 1 0 0 0 1
Mendelics 1 0 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
SBielas Lab, Department of Human Genetics,University of Michigan 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 1 0 0 0 0 1

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