ClinVar Miner

Variants studied for Bardet-Biedl syndrome

Included ClinVar conditions (41):
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
404 313 1531 296 280 3 2570

Gene and significance breakdown #

Total genes and gene combinations: 43
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BBS10 62 74 137 35 17 0 282
BBS2 42 56 124 33 23 0 237
BBS9 28 5 130 32 40 0 214
BBS12 35 30 112 31 29 0 201
ASTN2, TRIM32 13 2 155 19 9 0 190
BBS1, ZDHHC24 33 30 95 23 14 1 176
CEP290 12 3 115 6 19 0 155
BBS4 27 13 75 15 28 0 146
WDPCP 5 3 108 22 15 0 138
MKKS 23 3 82 10 18 0 129
BBS7 22 10 84 6 15 0 128
SDCCAG8 11 7 74 16 11 0 110
MKS1 5 23 68 8 8 0 105
BBS1 31 30 40 13 4 1 104
TTC8 4 2 63 14 12 0 84
BBS5 18 7 16 5 10 0 56
ARL6 12 3 26 6 4 0 50
AKT3, SDCCAG8 0 0 8 0 1 0 8
C12orf29, CEP290 0 0 7 1 0 0 8
TMEM67 3 2 2 0 0 0 7
BBS4, HIGD2B 0 0 2 0 3 0 5
C8orf37 2 2 1 0 0 0 5
LZTFL1 3 1 1 0 0 0 5
BBIP1 2 0 1 0 0 0 3
IFT172 2 1 0 0 0 0 3
IFT74 2 1 0 0 0 1 3
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
BBS9, RP9 0 0 1 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
PDE11A 0 0 0 1 0 0 1
TRAPPC3 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 194 40 673 191 155 0 1253
Illumina Clinical Services Laboratory,Illumina 5 2 760 79 164 0 1010
Counsyl 22 176 104 9 0 0 311
Natera, Inc. 21 3 80 23 45 0 172
OMIM 86 0 0 0 0 0 86
Fulgent Genetics,Fulgent Genetics 23 5 26 0 0 0 54
Laboratory of Medical Genetics, INSERM 50 0 0 0 0 0 50
Integrated Genetics/Laboratory Corporation of America 27 14 0 1 1 0 43
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
GeneReviews 12 0 0 0 16 0 28
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 16 6 1 1 0 0 24
Myriad Women's Health, Inc. 3 18 0 0 0 0 21
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 3 6 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
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 6 3 3 0 0 0 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 6 3 1 1 0 0 11
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
Molecular Genetics Laboratory,Institute for Ophthalmic Research 8 0 0 0 0 0 8
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 3 1 0 0 0 7
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 7 0 0 0 0 0 7
Broad Institute Rare Disease Group,Broad Institute 2 3 1 1 0 0 7
Baylor Genetics 3 1 2 0 0 0 6
Institute of Human Genetics,Klinikum rechts der Isar 6 0 0 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 5
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 2 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 2 0 0 0 0 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 3 0 0 0 0 3
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
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 1 0 1 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Johns Hopkins Genomics,Johns Hopkins University 1 0 2 0 0 0 3
Department of Neurology,Kindai University 3 0 0 0 0 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 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
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
InterGenetics 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Heon Lab,The Hospital for Sick Children 1 0 0 0 0 0 1

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