ClinVar Miner

Variants studied for Joubert syndrome

Included ClinVar conditions (87):
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
2046 826 7277 7325 836 22 17644

Gene and significance breakdown #

Total genes and gene combinations: 129
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEP290 517 108 940 1478 90 2 3034
CC2D2A 196 68 617 883 53 0 1733
RPGRIP1L 213 82 588 778 51 1 1623
AHI1 178 63 516 595 59 0 1340
KIAA0586 90 42 590 407 56 3 1180
TMEM67 126 63 359 428 29 0 959
CSPP1 74 18 422 275 33 1 819
MKS1 91 70 249 415 20 1 811
INPP5E 50 22 328 246 43 0 659
OFD1 44 13 270 222 84 0 610
TCTN2 35 18 255 192 27 0 510
CPLANE1 71 48 276 73 36 9 480
CEP41 13 5 237 115 25 0 383
TCTN3 27 8 171 144 13 0 361
TMEM237 25 10 207 114 24 0 360
TCTN1 29 14 160 145 15 1 352
TMEM231 29 6 159 126 16 0 331
ARL13B 21 6 136 110 11 1 273
TMEM216 21 32 87 123 16 1 260
ARFGEF1, CSPP1 8 5 103 66 10 0 190
CEP104 10 2 79 64 34 1 187
NPHP1 12 38 87 16 5 0 156
B9D1 7 5 66 65 8 0 147
TMEM138 13 2 75 42 6 0 130
CEP290, RLIG1 20 6 39 30 1 0 88
LOC130004408, TCTN3 7 3 22 26 4 0 60
PDE6D 8 2 20 28 1 0 58
LOC130061271, MKS1 7 3 21 21 0 0 51
B9D2 4 1 15 12 8 0 39
CEP290, LOC129390514 2 2 12 19 1 0 36
LOC126863212, OFD1 2 0 19 7 2 0 30
PIBF1 9 9 8 4 3 0 30
ARMC9 10 12 10 0 2 0 24
KIAA0753 7 3 0 3 9 0 22
SUFU 2 1 12 0 4 1 20
B9D1, LOC130060455 0 0 10 7 2 0 19
LOC130059440, TMEM231 3 1 8 6 1 0 19
CEP120 5 1 7 0 4 0 17
KATNIP 3 8 7 2 0 0 17
LOC129935417, TMEM237 0 0 11 3 3 0 17
CEP104, LOC126805586 1 0 4 6 5 0 16
TOGARAM1 9 10 3 0 0 0 14
TTC21B 0 0 9 1 3 0 13
IFT74 6 4 4 0 0 0 11
CPLANE1, LOC129389274 1 0 7 0 1 0 9
AHI1, LOC128669075 0 0 0 8 0 0 8
ATP6V0A2, TCTN2 0 0 1 0 8 0 8
CEP104, LOC126805587 1 0 0 5 2 0 8
CYB561A3, TMEM138 0 0 6 1 0 0 7
LOC130008755, TCTN1 0 0 0 4 1 0 5
ARL3 2 0 1 0 1 0 4
CPLANE1, LOC129993816 0 0 3 1 0 0 4
DNAJC9, FAM149B1 0 2 2 0 0 0 4
TMEM218 3 2 0 0 0 0 4
C2CD3 3 0 0 0 0 0 3
FAM149B1 2 1 1 0 0 0 3
LOC126806306, NPHP1 1 2 0 0 0 0 3
LOC129935846, PDE6D 0 0 1 2 0 0 3
LOC130059035, RPGRIP1L 0 0 3 0 0 0 3
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231 1 0 1 0 0 0 2
ARL13B, PROS1 0 0 2 0 0 0 2
ARMC9, LOC122861306 0 0 0 1 1 0 2
ATP6V0A2, LOC130009117, TCTN2 0 0 0 2 0 0 2
B9D2, TGFB1 0 0 1 0 1 0 2
CBY1 2 0 0 0 0 0 2
CLUAP1 0 2 0 0 0 0 2
OFD1, TRAPPC2 0 0 2 0 0 0 2
USH2A 0 0 2 0 0 0 2
ZNF423 2 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 1
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CAMSAP1, CARD9, CCDC183, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FBXW5, FUT7, GLT6D1, GPSM1, GRIN1, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, MRPS2, NACC2, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, OBP2A, PAEP, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, QSOX2, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SOHLH1, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TMEM250, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, UBAC1, ZMYND19 1 0 0 0 0 0 1
ACAP3, ACTRT2, AGRN, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73 1 0 0 0 0 0 1
AGPAT2, C9orf163, EGFL7, ENTR1, INPP5E, MIR126, NOTCH1, PMPCA, SEC16A 0 0 1 0 0 0 1
AHI1, LOC129389653, LOC129997223 1 0 0 0 0 0 1
AKAP1, APPBP2, BCAS3, BRIP1, C17orf47, C17orf67, CA4, CHCT1, CLTC, COIL, CUEDC1, DGKE, DHX40, DYNLL2, DYNLL2-DT, EPX, GDPD1, HEATR6, HSF5, LINC02875, LPO, MIR21, MKS1, MPO, MRPS23, MSI2, MTMR4, NACA2, NOG, OR4D1, OR4D2, PPM1D, PPM1E, PRR11, PTRH2, RAD51C, RNF43, RNFT1, RPS6KB1, SCPEP1, SEPTIN4, SKA2, SMG8, SRSF1, SUPT4H1, TBX2, TBX4, TEX14, TRIM25, TRIM37, TSPOAP1, TUBD1, USP32, VEZF1, VMP1, YPEL2 0 0 1 0 0 0 1
ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC5A10, SMCR8, SNORD3A, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B 0 0 1 0 0 0 1
ALPG, ALPI, ALPP, ARMC9, ATG16L1, B3GNT7, C2orf72, CAB39, CHRND, CHRNG, COPS7B, DGKD, DIS3L2, DNAJB3, ECEL1, EFHD1, EIF4E2, GIGYF2, GPR55, HJURP, HTR2B, ITM2C, KCNJ13, MROH2A, NCL, NEU2, NGEF, NMUR1, NPPC, PDE6D, PRSS56, PSMD1, PTMA, SAG, SNORC, SNORD20, SNORD82, SP100, SP110, SP140, SP140L, SPATA3, SPP2, TEX44, TIGD1, TRPM8, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, USP40 0 0 1 0 0 0 1
ALS2, MPP4, TMEM237 1 0 0 0 0 0 1
ARFGEF1, COPS5, CSPP1, MCMDC2, PPP1R42, SNHG6, SNORD87, TCF24 0 0 1 0 0 0 1
ARFGEF1, CPA6, CSPP1 1 0 0 0 0 0 1
ARID4A, KIAA0586, PSMA3, TIMM9, TOMM20L 1 0 0 0 0 0 1
ARL13B, DHFR2 0 0 1 0 0 0 1
ARL13B, DHFR2, NSUN3 0 0 1 0 0 0 1
ARL13B, DHFR2, NSUN3, PROS1, STX19 0 0 1 0 0 0 1
ARL13B, PROS1, STX19 0 0 1 0 0 0 1
ATXN3L, EGFL6, FAM9C, OFD1, RAB9A, TCEANC, TLR7, TLR8, TMSB4X, TRAPPC2 1 0 0 0 0 0 1
BST1, CC2D2A, CD38, FAM200B, FBXL5, FGFBP1, FGFBP2, PROM1, TAPT1 0 0 1 0 0 0 1
C12orf50, CEP290, KITLG, RLIG1, TMTC3 1 0 0 0 0 0 1
C2CD6, LOC129935416, LOC129935417, MPP4, TMEM237 1 0 0 0 0 0 1
C2CD6, MPP4, STRADB, TMEM237 0 0 1 0 0 0 1
C2CD6, TMEM237 1 0 0 0 0 0 1
CAV3, OXTR 0 0 1 0 0 0 1
CEP104, LOC126805586, LOC126805587 1 0 0 0 0 0 1
CEP290, LOC129390514, LOC130008346, RLIG1 1 0 0 0 0 0 1
CHST5, CHST6, TMEM170A, TMEM231 1 0 0 0 0 0 1
CHST5, CHST6, TMEM231 1 0 0 0 0 0 1
COPS5, CSPP1, PPP1R42 0 0 1 0 0 0 1
COQ8A 0 0 0 0 1 0 1
CPSF7, SDHAF2, TMEM216 0 0 1 0 0 0 1
CRYGD, LOC100507443 0 0 0 1 0 0 1
EIF2B1, GTF2H3, TCTN2 0 0 1 0 0 0 1
ENTPD1, TCTN3 0 0 1 0 0 0 1
EXOC8 0 0 1 0 0 0 1
FTO, IRX3, IRX5, IRX6, MMP2, RPGRIP1L 1 0 0 0 0 0 1
FTO, IRX3, IRX5, RPGRIP1L 0 0 1 0 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 0 1
GH-LCR, SCN4A 0 0 0 1 0 0 1
IFT172 1 0 0 0 0 0 1
INPP5E, SEC16A 0 0 1 0 0 0 1
KATNIP, LOC126862323 0 1 0 0 0 0 1
KIF7 0 0 1 0 0 0 1
LOC105371520, TMEM107 1 0 0 0 0 0 1
LOC126863212, LOC130067975, LOC130067976, OFD1 1 0 0 0 0 0 1
LOC130004614, SUFU 0 0 1 0 0 0 1
LRRC34 0 0 1 0 0 0 1
MALL, NPHP1 1 0 0 0 0 0 1
MICALL2 1 0 0 0 0 0 1
PDP1, TMEM67 1 0 0 0 0 0 1
PDPR 0 0 0 1 0 0 1
PKD2 0 0 0 0 1 0 1
RCOR1 0 1 0 0 0 0 1
RPE65 0 0 0 0 1 0 1
RPGRIP1 0 0 1 0 0 0 1
SLC30A7 1 0 0 0 0 0 1
SMAD6 0 0 1 0 0 0 1
SOS1 0 0 0 0 1 0 1
TBC1D32 0 1 0 0 0 0 1
TMEM17 0 0 1 0 0 0 1
WDPCP 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 136
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1677 431 5932 7069 668 0 15776
Illumina Laboratory Services, Illumina 0 1 1027 134 180 0 1341
Fulgent Genetics, Fulgent Genetics 116 99 637 240 10 0 1102
UW Hindbrain Malformation Research Program, University of Washington 276 13 0 0 0 0 289
Natera, Inc. 10 6 196 19 22 0 253
OMIM 162 0 4 0 0 0 166
Baylor Genetics 30 59 70 1 0 0 160
Genome-Nilou Lab 2 3 18 2 102 0 127
Counsyl 1 31 33 5 0 0 70
Mendelics 20 9 7 3 18 0 57
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 10 17 23 2 4 0 56
New York Genome Center 5 6 44 0 0 0 55
Revvity Omics, Revvity 12 9 30 0 0 0 51
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 19 10 15 1 0 0 45
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 22 5 16 0 0 0 43
Centre for Mendelian Genomics, University Medical Centre Ljubljana 20 7 14 0 0 0 41
Genetic Services Laboratory, University of Chicago 13 6 5 0 0 0 24
Institute of Human Genetics, University of Leipzig Medical Center 13 4 6 1 0 0 24
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 2 12 2 0 0 22
Neuberg Centre For Genomic Medicine, NCGM 3 6 12 0 0 0 21
3billion 8 8 4 0 0 0 20
University of Washington Center for Mendelian Genomics, University of Washington 0 18 1 0 0 0 19
Myriad Genetics, Inc. 1 18 0 0 0 0 19
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 9 8 0 17
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 4 7 4 1 0 0 16
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 7 6 2 0 0 0 15
GeneReviews 3 0 0 0 0 12 14
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 13 0 0 0 13
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 8 0 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 5 0 0 0 0 12
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 8 0 0 0 0 11
Johns Hopkins Genomics, Johns Hopkins University 4 4 3 0 0 0 11
SIB Swiss Institute of Bioinformatics 0 5 2 0 2 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 8 0 9
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 2 0 0 0 0 8
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 3 2 0 0 0 8
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 3 0 4 0 8
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 5 0 2 0 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 4 2 0 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 3 0 0 0 0 7
Suma Genomics 4 2 1 0 0 0 7
Institute of Medical Genetics, University of Zurich 4 2 0 0 0 0 6
DASA 5 1 0 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 5 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 5 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 1 2 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Molecular Genetics, Royal Melbourne Hospital 2 1 1 0 1 0 5
MGZ Medical Genetics Center 1 1 2 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 1 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 0 1 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 1 2 1 0 0 0 4
Rare Disease Group, Clinical Genetics, Karolinska Institutet 3 1 0 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 3 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 3 1 0 0 0 0 4
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital 4 0 0 0 0 0 4
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 2 1 0 0 0 4
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 2 0 0 0 0 4
Centogene AG - the Rare Disease Company 2 0 1 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 0 2 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 2 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 1 0 2 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 1 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 2 0 0 0 0 3
Institute of Human Genetics, Heidelberg University 2 1 0 0 0 0 3
Molecular and Clinical Genetics, Institute of Human Genetics P.A.S. 3 0 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 1 0 1 1 0 0 3
Clinical Genomics Program, Stanford Medicine 0 1 2 0 0 0 3
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 2 1 0 0 0 0 3
Lifecell International Pvt. Ltd 2 1 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 0 0 0 0 0 2
Blueprint Genetics 0 1 1 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 2 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 1 0 0 2
Dobyns Lab, Seattle Children's Research Institute 2 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 2 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 1 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Universitätsklinikum Salzburg, Universitätskinderklinik 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 2
Ege University Pediatric Genetics, Ege University 0 0 2 0 0 0 2
Genotek, Genotek Ltd. 0 0 2 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 2 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 0 0 0 2
Breda Genetics srl 2 0 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 1 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 2 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 2
Pars Genome Lab 1 0 0 1 0 0 2
Department of Neurology, Linyi People’s Hospital, The Eleventh Clinical Medical College of Qingdao University 2 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 0 2
Joe DiMaggio Children's Hospital, Memorial Healthcare System 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 0 2 0 0 0 2
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 1 0 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 0 1 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 1
Cancer Diagnostics Division, Gene Solutions 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Human Genetics Laboratory, Faculty of Medicine of Tunis 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Klinisk genetik och genomik Research, Gothenburg University 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 1
School of Computer Science, University of Waterloo 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Molecular Genetics, Sadra Medical Genetics Laboratory 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Department of Pediatrics, National Cheng-Kung University Hospital 0 1 0 0 0 0 1

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