ClinVar Miner

Variants studied for Rubinstein-Taybi syndrome due to CREBBP mutations

Included ClinVar conditions (2):
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
173 53 124 67 17 1 431

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CREBBP 169 50 37 6 10 1 269
EP300 3 3 86 61 7 0 160
ADCY9, ANKS3, C16orf71, C16orf96, CDIP1, CORO7, CORO7-PAM16, CREBBP, 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
ADCY9, CREBBP, GLIS2, LINC01569, LINC02861, SRL, TFAP4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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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
Wessex Regional Genetics Laboratory,Salisbury District Hospital 77 18 7 0 0 0 102
Genetic Services Laboratory, University of Chicago 57 14 11 0 0 0 82
Invitae 27 5 12 3 9 0 56
Mendelics 2 4 5 7 1 0 19
OMIM 8 0 0 0 0 0 8
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 7 0 0 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 4 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 3 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 0 0 0 0 0 3
Baylor Genetics 0 2 0 0 0 0 2
Fulgent Genetics,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
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
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
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1

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