ClinVar Miner

Variants studied for Rubinstein-Taybi syndrome 1

Coded as:
Minimum submission review status: Collection method:
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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
92 29 109 66 19 1 314

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
CREBBP 91 29 27 6 12 1 164
EP300 1 0 81 60 7 0 149
ADCY9, CREBBP, GLIS2, LINC01569, LOC102724927, SRL, TFAP4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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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 57 14 11 0 0 0 82
Invitae 15 5 10 6 12 0 48
The Molecular Genetic Diagnosis Center,Children’s Hospital of Fudan University 8 1 0 0 0 0 9
OMIM 8 0 0 0 0 0 8
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 3 0 0 0 4
HudsonAlpha Institute for Biotechnology 1 2 0 0 0 0 3
Fulgent Genetics 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 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
Baylor Miraca Genetics Laboratories, 0 1 0 0 0 0 1
Hehr Laboratory,Center for Human Genetics - University of 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
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 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 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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