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
295 255 729 130 94 2 1398

Gene and significance breakdown #

Total genes and gene combinations: 40
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BBS10 44 70 63 8 4 0 170
BBS2 31 36 65 18 9 0 136
BBS12 22 28 57 17 17 0 118
BBS9 24 4 49 21 12 0 103
CEP290 12 3 75 7 4 0 101
BBS1, ZDHHC24 28 24 46 4 5 0 97
ASTN2, TRIM32 4 1 80 6 1 0 92
MKS1 4 23 48 7 1 0 79
BBS4 24 9 28 5 14 0 77
MKKS 18 3 35 9 5 0 69
BBS7 17 6 33 3 9 0 64
WDPCP 2 0 47 9 4 0 60
BBS1 13 23 11 4 2 1 46
SDCCAG8 7 5 30 1 4 0 46
TTC8 4 1 26 4 1 0 35
ARL6 8 2 11 3 1 0 25
BBS5 14 6 3 1 0 0 24
TMEM67 3 2 2 0 0 0 7
AKT3, SDCCAG8 0 0 6 0 0 0 6
C12orf29, CEP290 0 0 5 1 0 0 6
BBS4, HIGD2B 0 0 2 2 1 0 5
C8orf37 2 2 1 0 0 0 5
LZTFL1 3 1 1 0 0 0 5
IFT74 2 1 0 0 0 1 3
BBIP1 1 0 1 0 0 0 2
IFT27, LOC105373021 2 0 0 0 0 0 2
PNPLA6 2 0 0 0 0 0 2
AKT3, CEP170, LINC01347, LOC110120698, MIR4677, PLD5, SDCCAG8 1 0 0 0 0 0 1
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
EML5, PTPN21, SPATA7, TTC8, ZC3H14 0 0 1 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: 51
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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
Counsyl 25 176 104 9 0 0 314
Invitae 86 15 155 10 1 0 267
OMIM 86 0 0 0 0 0 86
Fulgent Genetics,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 18 9 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
Sharon lab,Hadassah-Hebrew University Medical Center 9 4 0 0 0 0 13
Mendelics 6 0 2 1 3 0 12
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
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 7 0 0 0 0 0 7
Baylor Genetics 3 1 2 0 0 0 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 2 1 0 0 0 6
Human Genetics - Radboudumc,Radboudumc 4 0 2 0 0 0 6
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 5 0 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 4 0 0 0 0 5
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 4 0 0 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 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
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 3
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
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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 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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