ClinVar Miner

Variants studied for Joubert syndrome

Included ClinVar conditions (97):
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
2241 1376 8535 7964 848 22 19961

Gene and significance breakdown #

Total genes and gene combinations: 133
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEP290 554 201 1090 1534 91 2 3316
CC2D2A 220 133 712 952 54 0 1940
RPGRIP1L 224 134 667 819 52 1 1766
AHI1 196 116 590 632 59 0 1484
KIAA0586 96 46 605 476 57 3 1274
TMEM67 145 94 412 467 30 0 1079
CSPP1 85 23 421 320 33 1 876
MKS1 98 83 283 435 20 1 871
CPLANE1 82 112 553 76 36 9 825
OFD1 49 18 369 259 84 0 746
INPP5E 53 42 375 272 43 0 734
TCTN2 39 37 307 227 28 0 608
TMEM237 26 15 237 128 24 0 405
TMEM231 33 17 201 144 18 0 396
CEP41 16 6 240 119 25 0 393
TCTN3 30 19 173 163 13 0 391
TCTN1 31 23 166 155 16 1 379
ARL13B 24 21 162 127 11 1 322
TMEM216 22 37 101 126 16 1 279
NPHP1 15 59 156 19 5 0 250
CEP104 12 14 85 84 35 1 223
ARFGEF1, CSPP1 9 5 103 80 10 0 205
B9D1 9 8 63 73 8 0 156
TMEM138 14 9 97 44 6 0 156
CEP290, RLIG1 20 9 45 32 1 0 95
LOC130004408, TCTN3 8 5 22 32 4 0 68
PDE6D 8 2 21 30 1 0 61
LOC130061271, MKS1 7 3 23 23 0 0 55
B9D2 4 1 16 14 8 0 42
CEP290, LOC129390514 2 3 13 21 1 0 40
LOC126863212, OFD1 2 0 26 10 2 0 40
SUFU 2 1 27 3 5 1 39
PIBF1 9 10 11 5 3 0 34
ARMC9 11 13 10 0 2 0 26
KATNIP 6 11 8 2 0 0 24
B9D1, LOC130060455 1 0 11 9 2 0 23
KIAA0753 7 3 0 3 9 0 22
LOC129935417, TMEM237 0 3 12 3 3 0 20
LOC130059440, TMEM231 3 1 9 6 1 0 20
CEP104, LOC126805586 1 2 5 6 5 0 19
CEP120 5 1 9 0 4 0 19
TOGARAM1 9 13 5 0 0 0 19
CPLANE1, LOC129389274 1 3 11 1 1 0 17
TTC21B 0 0 9 1 3 0 13
LOC126806306, NPHP1 2 4 6 0 0 0 12
IFT74 6 4 4 0 0 0 11
AHI1, LOC128669075 0 0 0 9 0 0 9
ATP6V0A2, TCTN2 1 0 1 0 8 0 9
CEP104, LOC126805587 1 0 1 5 2 0 9
LOC130004614, SUFU 0 0 6 2 0 0 8
CYB561A3, TMEM138 0 0 6 1 0 0 7
DNAJC9, FAM149B1 1 2 3 0 1 0 7
ARL3 2 0 2 0 1 0 5
FAM149B1 3 2 1 0 0 0 5
LOC130008755, TCTN1 0 0 0 4 1 0 5
C2CD3 3 0 1 0 0 0 4
CPLANE1, LOC129993816 0 0 3 1 0 0 4
LOC129935846, PDE6D 0 0 1 3 0 0 4
TMEM218 3 2 0 0 0 0 4
ARMC9, LOC122861306 0 1 0 1 1 0 3
LOC130059035, RPGRIP1L 0 0 3 0 0 0 3
OFD1, TRAPPC2 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
ATP6V0A2, LOC130009117, TCTN2 0 0 0 2 0 0 2
B9D2, TGFB1 0 0 1 0 1 0 2
C12orf50, CEP290, RLIG1 2 0 0 0 0 0 2
CBY1 2 0 0 0 0 0 2
CLUAP1 0 2 0 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, TMEM278, TMEM52, 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
CARD9, ENTR1, INPP5E, PMPCA, SNAPC4 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
LMOD3 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
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
NPHP3, NPHP3-ACAD11 0 0 1 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: 157
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1831 462 6050 7676 675 0 16693
Fulgent Genetics, Fulgent Genetics 206 634 2328 273 11 0 3450
Illumina Laboratory Services, Illumina 1 1 1014 134 180 0 1329
UW Hindbrain Malformation Research Program, University of Washington 276 13 0 0 0 0 289
Natera, Inc. 10 6 196 19 22 0 253
Baylor Genetics 33 70 70 1 0 0 174
OMIM 163 0 4 0 0 0 167
Genome-Nilou Lab 2 3 18 2 102 0 127
Department of Pathology and Laboratory Medicine, Sinai Health System 15 17 61 7 6 0 106
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 30 21 22 2 0 0 73
Counsyl 1 31 33 5 0 0 70
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 31 7 26 0 0 0 64
Mendelics 20 9 7 3 18 0 57
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 10 17 24 2 4 0 57
New York Genome Center 5 6 46 0 0 0 57
Revvity Omics, Revvity 12 9 30 0 0 0 51
Neuberg Centre For Genomic Medicine, NCGM 5 12 26 0 0 0 43
Juno Genomics, Hangzhou Juno Genomics, Inc 24 12 6 0 0 0 42
3billion 17 11 6 8 0 0 42
Centre for Mendelian Genomics, University Medical Centre Ljubljana 20 7 14 0 0 0 41
Institute of Human Genetics, University of Leipzig Medical Center 16 5 6 1 0 0 28
Genetic Services Laboratory, University of Chicago 13 6 5 0 0 0 24
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 2 13 2 0 0 23
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 6 0 0 0 0 18
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 9 8 0 17
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 12 0 0 0 0 15
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 7 6 2 0 0 0 15
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 6 3 0 4 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
Johns Hopkins Genomics, Johns Hopkins University 4 4 3 0 0 0 11
Clinical Genomics Laboratory, Stanford Medicine 0 1 10 0 0 0 11
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 5 2 0 0 0 9
SIB Swiss Institute of Bioinformatics 1 5 1 0 2 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 8 0 9
Suma Genomics 5 2 2 0 0 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
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 5 0 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
Institute of Medical Genetics, University of Zurich 4 2 0 0 0 0 6
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 3 2 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 0 1 0 0 0 5
Daryl Scott Lab, Baylor College of Medicine 2 1 2 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 3 2 0 0 0 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
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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 1 0 0 0 0 3
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 3 0 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
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
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 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
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 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 1 1 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 0 0 0 2
Gharavi Laboratory, Columbia University 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
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 2 0 0 0 0 0 2
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 1 1 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
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 2
Medical Genetics Clinic, University of Catania 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
MVZ Medizinische Genetik Mainz 1 0 1 0 0 0 2
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 1 0 0 0 0 2
Sheng Clinic, Gansu Aier Optometry Hospital 0 2 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
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
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
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 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
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 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
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 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
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
Department of Pediatrics, National Cheng-Kung University Hospital 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1

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