ClinVar Miner

Variants studied for Bardet-Biedl syndrome

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
1528 1719 5445 4412 374 15 12534

Gene and significance breakdown #

Total genes and gene combinations: 93
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BBS2 142 200 412 522 33 0 1182
BBS9 101 88 398 527 54 0 1097
CEP290 147 313 465 61 22 2 986
BBS10 178 193 416 315 19 1 982
BBS12 137 124 342 295 30 0 821
BBS4 106 111 266 339 47 1 806
BBS7 97 83 276 302 25 0 731
ASTN2, TRIM32 54 26 342 257 11 2 659
BBS1, ZDHHC24 84 96 242 295 17 2 658
WDPCP 31 24 349 251 19 1 636
SDCCAG8 48 48 301 208 16 0 589
MKKS 87 66 225 221 18 0 565
BBS1 86 60 136 228 9 1 475
TTC8 36 25 259 165 14 0 473
BBS5 48 33 124 156 12 0 354
IFT172 7 32 249 44 0 1 329
ARL6 34 23 82 110 5 0 246
MKS1 16 65 148 6 11 0 230
TMEM67 25 36 123 24 0 0 205
AKT3, SDCCAG8 1 1 25 25 2 0 53
LZTFL1 6 6 31 8 0 2 50
IFT172, KRTCAP3 3 4 33 7 0 0 47
CEP290, RLIG1 5 19 20 1 0 0 42
IFT172, LOC126806173 0 4 31 7 0 0 41
BBS5, LOC129935068 8 3 10 14 2 0 35
IFT172, LOC126806174 1 4 20 3 0 0 28
BBIP1 2 0 18 2 0 1 21
CFAP418 2 2 12 2 0 0 18
LOC130061271, MKS1 1 4 11 2 1 0 17
LOC128706665, LOC128706666, MKKS 0 0 12 2 2 0 16
BBS7, LOC129993036 0 0 8 8 0 0 15
IFT74 6 3 4 0 3 1 15
CEP290, LOC129390514 2 5 6 1 0 0 14
CFAP418, LOC130000784 1 1 6 1 0 0 9
ALMS1 3 3 1 0 0 0 7
IFT27 2 0 1 1 1 0 5
NPHP4 0 0 5 0 0 0 5
CEP170, SDCCAG8 3 0 1 0 0 0 4
BBS9, LOC129998228 0 0 2 0 1 0 3
BBS9, RP9 1 0 2 0 0 0 3
CACNG2-DT, IFT27 2 0 1 0 0 0 3
CCDC28B 1 0 2 1 0 0 3
ARL6, EPHA6 1 0 1 0 0 0 2
CEP76, PSMG2 0 2 0 0 0 0 2
IFT57 0 0 2 0 0 0 2
NPHP1 1 0 1 0 0 0 2
RPGRIP1 0 0 2 0 0 0 2
WDR19 0 0 2 0 0 0 2
ABCB11, BBS5, DHRS9, LRP2 0 0 1 0 0 0 1
ADGRG1, ADGRG3, ADGRG5, AMFR, ARL2BP, BBS2, CCDC102A, CCL17, CCL22, CETP, CFAP20, CFAP263, CIAPIN1, CNGB1, CNOT1, COQ9, CPNE2, CSNK2A2, CX3CL1, DOK4, DRC7, GINS3, GNAO1, GOT2, HERPUD1, KATNB1, KIFC3, MIR138-2, MMP15, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, NDRG4, NLRC5, NUDT21, NUP93, OGFOD1, PLLP, POLR2C, PRSS54, PSME3IP1, RSPRY1, SETD6, SLC12A3, SLC38A7, SPMIP8, USB1, ZNF319 1 0 0 0 0 0 1
ADPGK, ARID3B, BBS4, CCDC33, CD276, CLK3, CPLX3, CSK, CYP11A1, CYP1A1, CYP1A2, EDC3, GOLGA6A, HCN4, INSYN1, ISLR, ISLR2, LMAN1L, LOXL1, MPI, NEO1, NPTN, PML, REC114, SCAMP2, SEMA7A, STOML1, STRA6, TBC1D21, UBL7, ULK3 0 0 1 0 0 0 1
ADSS2, AKT3, CATSPERE, CEP170, COX20, DESI2, HNRNPU, SDCCAG8, SPMIP3, ZBTB18 0 0 1 0 0 0 1
AKT3, AKT3-IT1, CEP170, LINC01347, LOC110120698, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC129388799, MIR4677, PLD5, SDCCAG8 1 0 0 0 0 0 1
AP5B1, ARL2, ATG2A, B4GAT1, BANF1, BATF2, BBS1, BRMS1, C11orf68, CAPN1, CATSPER1, CCDC85B, CD248, CDC42BPG, CDC42EP2, CDCA5, CFL1, CNIH2, CST6, CTSW, DPF2, DPP3, DRAP1, EFEMP2, EHBP1L1, EHD1, EIF1AD, FAM89B, FAU, FIBP, FOSL1, FRMD8, GAL3ST3, GPHA2, KAT5, KCNK7, KLC2, LTBP3, MAJIN, MALAT1, MAP3K11, MAP4K2, MEN1, MIR192, MIR194-2, MRPL11, MRPL49, MUS81, NAALADL1, NEAT1, NPAS4, OVOL1, PACS1, PCNX3, PELI3, POLA2, PPP2R5B, PYGM, RAB1B, RELA, RIN1, RNASEH2C, SAC3D1, SART1, SCYL1, SF1, SF3B2, SIPA1, SLC25A45, SLC29A2, SNX15, SNX32, SPDYC, SYVN1, TIGD3, TM7SF2, TMEM151A, TSGA10IP, VPS51, YIF1A, ZFPL1, ZNHIT2, ZNRD2 1 0 0 0 0 0 1
ARL6, CRYBG3, LOC129937104 0 1 0 0 0 0 1
ARL6IP6, LOC129934936 0 1 0 0 0 0 1
BBS1, DPP3 1 0 0 0 0 0 1
BBS1, DPP3, LOC130006125, ZDHHC24 0 1 0 0 0 0 1
BBS10, OSBPL8 1 1 0 0 0 0 1
BBS12, LOC129993043 0 1 0 0 0 0 1
BBS2, OGFOD1 0 0 1 0 0 0 1
BBS5, KLHL41 0 0 1 0 0 0 1
BBS5, LOC129388940 0 1 0 0 0 0 1
BBS5, LOC129935067, LOC129935068 1 0 0 0 0 0 1
BBS7, TRPC3 1 0 0 0 0 0 1
BBS9, NT5C3A, RP9 1 0 0 0 0 0 1
CACNG2-DT, IFT27, LOC126863139 0 1 0 0 0 0 1
CCR9, LZTFL1 0 0 1 0 0 0 1
CEP19 1 0 0 0 0 0 1
COMT 1 0 0 0 0 0 1
EHBP1, MDH1, OTX1, PELI1, UGP2, VPS54, WDPCP 0 0 1 0 0 0 1
EML5, LOC129390658, LOC130056226, LOC130056227, LOC130056228, LOC130056229, LOC130056230, LOC130056231, LOC130056232, LOC130056233, LOC130056234, PTPN21, SPATA7, TTC8, ZC3H14 0 0 1 0 0 0 1
F8 0 0 1 0 0 0 1
GLI1 0 0 1 0 0 0 1
GLI2 0 0 1 0 0 0 1
HTR2B, PSMD1 0 0 1 0 0 0 1
IMPG2 1 0 0 0 0 0 1
IQCB1 0 1 0 0 0 0 1
JAG1, MKKS, SLX4IP, SNAP25 0 0 1 0 0 0 1
KCNAB2, NPHP4 0 1 0 0 0 0 1
LOC126862183, SCAPER 0 0 1 0 0 0 1
LOC130061278, TSPOAP1 0 0 1 0 0 0 1
NADK2 0 0 1 0 0 0 1
NF1 1 0 0 0 0 0 1
NPHP3, NPHP3-ACAD11 0 0 1 0 0 0 1
PDE11A 0 0 0 1 0 0 1
PHLDB1 0 0 1 0 0 0 1
RPGRIP1L 0 1 0 0 0 0 1
SCLT1 0 1 0 0 0 0 1
TRAPPC3 0 1 0 0 0 0 1
TSPOAP1 1 0 0 0 0 0 1
TTC21B 0 0 1 0 0 0 1
USH2A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 144
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1051 196 2916 4121 240 0 8524
Fulgent Genetics, Fulgent Genetics 232 551 2367 377 3 0 3530
Baylor Genetics 320 670 33 0 0 0 1023
Illumina Laboratory Services, Illumina 5 2 700 72 157 0 936
Natera, Inc. 89 156 411 55 52 0 763
Counsyl 22 175 99 9 0 0 305
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 96 62 0 1 1 0 160
OMIM 99 0 0 0 0 0 99
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 43 17 37 0 0 0 96
New York Genome Center 4 5 82 0 0 0 91
Genome-Nilou Lab 0 2 27 4 51 0 84
Myriad Genetics, Inc. 10 49 7 0 0 0 66
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 26 17 15 1 0 0 58
Revvity Omics, Revvity 19 19 20 0 0 0 58
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 57 0 0 0 0 0 57
Department of Pathology and Laboratory Medicine, Sinai Health System 15 10 29 0 0 0 54
3billion 15 10 10 3 0 0 38
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 1 1 8 27 0 38
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago 10 23 4 0 0 0 37
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 10 24 1 0 0 35
Genome Diagnostics Laboratory, University Medical Center Utrecht 3 0 0 3 24 0 30
GeneReviews 9 0 0 0 16 3 28
Neuberg Centre For Genomic Medicine, NCGM 6 9 8 0 0 0 23
Juno Genomics, Hangzhou Juno Genomics, Inc 11 7 3 0 0 0 21
Molecular Endocrinology Laboratory, Christian Medical College 0 2 19 0 0 0 21
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 4 7 0 0 0 20
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 2 16 0 19
Genomic Research Center, Shahid Beheshti University of Medical Sciences 9 2 7 1 0 0 19
Mendelics 10 0 4 1 3 0 18
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 4 13 0 17
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 9 3 0 0 0 17
First Genomix Gene Laboratory, Genetic Diagnostics Department 7 9 0 0 0 0 16
Sharon lab, Hadassah-Hebrew University Medical Center 9 4 0 0 0 0 13
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 3 5 4 0 0 0 12
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 6 3 3 0 0 0 12
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 5 2 1 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 3 1 1 0 0 11
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 6 0 0 0 0 11
Pars Genome Lab 0 0 2 1 8 0 11
Daryl Scott Lab, Baylor College of Medicine 6 0 3 0 0 0 9
Department Of Medical Genetics, Faculty Of Medicine, Ege University 9 0 0 0 0 0 9
Genetic Services Laboratory, University of Chicago 7 2 0 0 0 0 9
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 9 9
MVZ Medizinische Genetik Mainz 5 0 4 0 0 0 9
Molecular Genetics Laboratory, Institute for Ophthalmic Research 8 0 0 0 0 0 8
Sydney Genome Diagnostics, Children's Hospital Westmead 2 4 2 0 0 0 8
Athena Diagnostics 0 0 0 0 7 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 2 1 0 0 0 7
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 7 0 0 0 0 0 7
Clinical Genetics and Genomics, Karolinska University Hospital 3 4 0 0 0 0 7
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 3 1 0 0 0 7
Department of Medical Genetics, Erciyes University Faculty of Medicine 3 2 2 0 0 0 7
Department of Pediatrics, National Cheng-Kung University Hospital 4 2 1 0 0 0 7
Genomics England Pilot Project, Genomics England 2 5 0 0 0 0 7
Gharavi Laboratory, Columbia University 7 0 0 0 0 0 7
Institute of Human Genetics Munich, TUM University Hospital 7 0 0 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 3 1 0 0 0 7
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 4 0 0 0 0 6
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 5 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 1 0 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 4 0 2 0 0 0 6
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center 3 2 1 0 0 0 6
Tolun Lab, Human Genetics Laboratory, Bogazici University 1 0 5 0 0 0 6
DBGen Ocular Genomics 3 1 1 0 0 0 5
Heon Lab, The Hospital for Sick Children 3 0 2 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 2 0 0 0 5
Molecular Biology Laboratory, Fundació Puigvert 2 3 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 0 5 0 0 0 0 5
Suma Genomics 4 0 1 0 0 0 5
Variantyx, Inc. 3 2 0 0 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 3 1 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Institute of Human Genetics, University of Leipzig Medical Center 3 0 1 0 0 0 4
MVZ Martinsried, Medicover Genetics 1 2 1 0 0 0 4
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 3 1 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 2 0 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 2 0 1 0 1 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 2 0 0 0 0 3
Department of Neurology, Kindai University 3 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 2 0 0 0 3
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 2 1 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 0 0 0 3
MGZ Medical Genetics Center 2 0 1 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 1 1 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 1 0 1 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 1 0 0 0 3
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 0 1 1 0 0 2
Clinical Genomics Laboratory, IWK Health Center 0 1 1 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 1 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Dr.Nikuei Genetic Center 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 1 0 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 1 0 1 0 0 0 2
Laboratory of Nephrology, Qingdao Municipal Hospital 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 0 0 2 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 2 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 1 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 1 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Cellular and Molecular Research Center, Qom University of Medical Sciences 0 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1
Clinical Genetics and Genomics Laboratory, Noor Shahriyar Hospital 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 0 1 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 1 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 1
Department of Urology, Children's Hospital, Zhejiang University School of Medicine 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
InterGenetics 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 1 0 0 0 0 0 1
Otogenetics 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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