ClinVar Miner

Variants studied for Bardet-Biedl syndrome

Included ClinVar conditions (37):
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
264 227 688 166 150 1 1371

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BBS10 38 63 62 10 7 0 162
BBS2 27 36 63 21 10 0 134
BBS12 18 27 54 20 22 0 119
BBS9 24 3 44 27 25 0 107
CEP290 12 2 75 7 4 0 100
BBS1, ZDHHC24 24 23 46 5 8 0 95
ASTN2, TRIM32 4 1 65 9 3 0 80
BBS4 21 6 27 10 17 0 77
MKS1 5 20 47 7 1 0 77
MKKS 16 3 32 10 10 0 69
BBS7 14 3 33 6 10 0 62
WDPCP 2 0 46 11 7 0 61
BBS1 12 21 11 6 3 1 46
SDCCAG8 6 3 26 3 6 0 42
TTC8 4 0 23 6 6 0 36
BBS5 12 6 3 2 7 0 30
ARL6 7 2 10 3 2 0 23
AKT3, SDCCAG8 0 0 6 0 1 0 7
TMEM67 3 2 2 0 0 0 7
C12orf29, CEP290 0 0 5 1 0 0 6
BBS4, HIGD2B 0 0 2 2 1 0 5
LZTFL1 3 0 1 0 0 0 4
C8orf37 2 0 1 0 0 0 3
BBIP1 1 0 1 0 0 0 2
IFT27, LOC105373021 2 0 0 0 0 0 2
IFT74 2 1 0 0 0 0 2
PNPLA6 2 0 0 0 0 0 2
ALMS1 0 1 0 0 0 0 1
ARL6, CRYBG3 0 1 0 0 0 0 1
BBS1, DPP3, ZDHHC24 0 1 0 0 0 0 1
CCDC28B 0 0 1 0 0 0 1
CEP19 1 0 0 0 0 0 1
GLI1 0 0 1 0 0 0 1
HTR2B, PSMD1 0 0 1 0 0 0 1
IFT27 1 0 0 0 0 0 1
KCNAB2, NPHP4 0 1 0 0 0 0 1
NPHP1 1 0 0 0 0 0 1
TRAPPC3 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 5 2 454 94 37 0 592
Invitae 55 10 118 46 85 0 314
Counsyl 25 168 103 9 0 0 305
OMIM 86 0 0 0 0 0 86
Fulgent Genetics 23 5 26 0 0 0 54
Laboratory of Medical Genetics, INSERM 46 0 0 0 0 0 46
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 1 1 9 27 0 39
Genome Diagnostics Laboratory,University Medical Center Utrecht 3 0 0 3 24 0 30
Integrated Genetics/Laboratory Corporation of America 17 10 0 1 1 0 29
GeneReviews 12 0 0 0 16 0 28
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 2 16 0 19
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 4 13 0 17
Center for Human Disease Modeling,Duke University Medical Center 1 15 0 0 0 0 16
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 10 3 0 0 0 0 13
Genomic Research Center,Shahid Beheshti University of Medical Sciences 5 1 6 0 0 0 12
MAGI'S LAB - Medical Genetics Laboratory,MAGI GROUP 6 3 3 0 0 0 12
Genetic Services Laboratory, University of Chicago 7 2 0 0 0 0 9
Department of Medical Genetics, Faculty of Medicine,Ege University 9 0 0 0 0 0 9
Athena Diagnostics Inc 0 0 0 0 7 0 7
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 3 3 1 0 0 0 7
Human Genetics - Radboudumc,Radboudumc 4 0 2 0 0 0 6
Tolun Lab, Human Genetics Laboratory,Bogazici University 1 0 5 0 0 0 6
Broad Institute Rare Disease Group,Broad Institute 2 3 1 0 0 0 6
Baylor Miraca Genetics Laboratories, 2 0 2 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 0 1 0 0 0 4
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 4 0 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 2 0 0 0 0 4
Molecular Diagnostics Laboratory,M Health: University of Minnesota 2 2 0 0 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 1 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 1 0 1 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 1 0 0 0 0 2
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 1 0 1 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 0 0 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences (IUMS) 1 0 0 0 0 0 1
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
InterGenetics 1 0 0 0 0 0 1

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