ClinVar Miner

Variants studied for Rubinstein-Taybi syndrome

Included ClinVar conditions (6):
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
215 66 143 68 18 4 502

Gene and significance breakdown #

Total genes and gene combinations: 5
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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 45 16 105 62 8 2 230
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NPIPA5, RRN3 0 0 0 0 0 1 1
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: 31
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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 90 20 8 0 0 0 118
Genetic Services Laboratory, University of Chicago 59 14 17 0 0 0 90
Invitae 32 5 25 3 12 0 77
Mendelics 3 4 5 7 1 0 19
OMIM 17 0 0 0 0 0 17
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
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
Baylor Genetics 1 3 1 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 4 0 0 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 0 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 2 0 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 0 0 0 0 0 3
Fulgent Genetics,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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
SickKids Clinical Genetics Group,The Hospital for Sick Children 0 0 0 0 0 2 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 0 1 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
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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