ClinVar Miner

Variants studied for Joubert syndrome

Included ClinVar conditions (101):
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
2372 1500 8694 8443 853 29 20800

Gene and significance breakdown #

Total genes and gene combinations: 140
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEP290 569 205 1100 1582 91 3 3397
CC2D2A 230 144 714 1003 54 0 2010
RPGRIP1L 234 192 750 835 53 1 1901
AHI1 202 122 594 653 58 0 1516
KIAA0586 109 53 613 515 58 4 1340
TMEM67 154 101 419 491 33 0 1125
CSPP1 92 24 424 339 33 1 904
MKS1 98 67 285 441 20 1 865
CPLANE1 86 115 551 75 36 10 828
OFD1 54 19 399 275 85 0 799
INPP5E 60 44 379 301 43 0 773
TCTN2 43 39 309 250 35 0 643
TMEM231 36 18 203 166 18 0 424
TMEM237 28 15 234 142 24 0 419
TCTN3 35 19 175 178 13 0 413
TCTN1 35 24 166 174 16 1 403
CEP41 18 8 232 125 24 0 393
ARL13B 27 24 164 146 11 1 346
TMEM216 22 39 113 133 16 1 299
CEP104 16 17 86 128 38 1 276
NPHP1 15 60 156 19 5 0 251
ARFGEF1, CSPP1 9 5 103 88 10 0 213
B9D1 10 8 63 79 8 0 163
TMEM138 15 11 93 51 6 1 160
CEP290, RLIG1 21 9 45 31 1 0 95
LOC130004408, TCTN3 8 5 23 35 4 0 72
PDE6D 8 2 23 33 1 0 66
LOC130061271, MKS1 7 3 23 24 0 0 56
B9D2 4 1 16 24 8 0 52
LOC126863212, OFD1 2 0 27 12 2 0 43
CEP290, LOC129390514 2 3 13 21 1 0 40
SUFU 2 1 27 3 5 1 39
PIBF1 9 13 12 5 3 0 37
ARMC9 13 17 11 0 2 0 33
KATNIP 9 13 9 2 0 0 29
TOGARAM1 10 15 10 0 0 0 25
B9D1, LOC130060455 1 0 11 10 2 0 24
CEP104, LOC126805586 2 2 5 10 5 0 24
KIAA0753 7 4 0 3 9 0 23
LOC130059440, TMEM231 4 1 9 8 1 0 23
CEP120 5 3 9 0 4 0 21
LOC129935417, TMEM237 0 3 12 3 3 0 20
CPLANE1, LOC129389274 1 3 11 1 1 0 17
IFT74 6 4 4 0 0 2 13
LOC126806306, NPHP1 2 4 6 0 0 0 12
CEP104, LOC126805587 1 0 1 6 2 0 10
AHI1, LOC128669075 0 0 0 9 0 0 9
FAM149B1 4 4 1 0 0 0 8
LOC130004614, SUFU 0 0 6 2 0 0 8
DNAJC9, FAM149B1 1 2 3 0 1 0 7
ARL3 2 0 3 0 1 0 6
CEP76, PSMG2 2 3 0 0 0 0 5
LOC130008755, TCTN1 0 0 0 4 1 0 5
ARMC9, LOC122861306 0 2 0 1 1 0 4
C2CD3 3 0 1 0 0 0 4
LOC129935846, PDE6D 0 0 1 3 0 0 4
TMEM218 3 2 0 0 0 0 4
CPLANE1, LOC129993816 0 0 3 0 0 0 3
KATNIP, LOC126862323 0 2 0 0 0 1 3
LOC130059035, RPGRIP1L 0 0 3 0 0 0 3
OFD1, TRAPPC2 0 0 3 0 0 0 3
TTC21B 0 0 1 0 2 0 3
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231 1 0 1 0 0 0 2
ARL13B, PROS1 0 0 2 0 0 0 2
B9D2, TGFB1 0 0 1 0 1 0 2
CBY1 2 0 0 0 0 0 2
CEP290, RLIG1, ZC3H11D 2 0 0 0 0 0 2
IFT38 0 2 0 0 0 0 2
KIF7 1 0 1 0 0 0 2
MALL, NPHP1 2 0 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, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SACK1G, 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
ATP6V0A2, TCTN2 1 0 0 0 0 0 1
ATXN3L, EGFL6, FAM9C, OFD1, RAB9A, TCEANC, TLR7, TLR8, TMSB4X, TRAPPC2 1 0 0 0 0 0 1
BST1, CC2D2A, CD38, FBXL5, FGFBP1, FGFBP2, PROM1, TAPT1, ZBED11 0 0 1 0 0 0 1
CARD9, ENTR1, INPP5E, PMPCA, SNAPC4 1 0 0 0 0 0 1
CATSPERT, LOC129935416, LOC129935417, MPP4, TMEM237 1 0 0 0 0 0 1
CATSPERT, MPP4, STRADB, TMEM237 0 0 1 0 0 0 1
CATSPERT, 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, KITLG, RLIG1, TMTC3, ZC3H11D 1 0 0 0 0 0 1
CEP290, LOC129390514, LOC130008346, RLIG1 1 0 0 0 0 0 1
CHD7 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
CR2, LOC126805994 0 0 1 0 0 0 1
CRB2 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
GH-LCR, SCN4A 0 0 0 1 0 0 1
GLIS2 0 0 1 0 0 0 1
IFT172 1 0 0 0 0 0 1
INPP5E, SEC16A 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
LSM7 0 1 0 0 0 0 1
MCM8 1 0 0 0 0 0 1
MICALL2 1 0 0 0 0 0 1
NIN 0 1 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
PKD1 0 0 1 0 0 0 1
PKD2 0 0 0 0 1 0 1
RCOR1 0 1 0 0 0 0 1
RLIM 0 0 0 1 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: 174
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1936 491 6156 8167 684 0 17433
Fulgent Genetics, Fulgent Genetics 206 634 2328 273 11 0 3450
Illumina Laboratory Services, Illumina 1 1 951 118 171 0 1242
Natera, Inc. 22 109 298 20 22 0 471
UW Hindbrain Malformation Research Program, University of Washington 276 13 0 0 0 0 289
Baylor Genetics 33 70 70 1 0 0 174
OMIM 166 0 4 0 0 0 170
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 36 25 27 3 0 0 89
3billion 25 20 18 8 0 0 71
Counsyl 1 31 33 5 0 0 70
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 37 8 25 0 0 0 70
Revvity Omics, Revvity 13 13 34 0 0 0 60
Mendelics 21 9 7 3 18 0 58
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
Juno Genomics, Hangzhou Juno Genomics, Inc 28 13 6 0 0 0 47
First Genomix Gene Laboratory, Genetic Diagnostics Department 11 34 0 0 0 0 45
Neuberg Centre For Genomic Medicine, NCGM 5 12 26 0 0 0 43
Centre for Mendelian Genomics, University Medical Centre Ljubljana 20 7 14 0 0 0 41
Institute of Human Genetics, University of Leipzig Medical Center 18 5 6 1 0 0 30
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 6 0 0 0 0 23
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 14 0 0 0 0 19
University of Washington Center for Mendelian Genomics, University of Washington 0 18 1 0 0 0 19
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 9 8 0 17
Clinical Genomics Laboratory, Stanford Medicine 0 2 14 0 0 0 16
Johns Hopkins Genomics, Johns Hopkins University 5 5 6 0 0 0 16
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 7 6 2 0 0 0 15
Dubai Health Genomic Medicine Center, Dubai Health 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
Clinical Genetics and Genomics, Karolinska University Hospital 8 2 0 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 9 0 0 0 10
Daryl Scott Lab, Baylor College of Medicine 4 3 2 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 8 0 9
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 9 9
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
Suma Genomics 5 2 2 0 0 0 9
Institute of Human Genetics Munich, TUM University Hospital 6 2 0 0 0 0 8
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 3 2 0 0 0 8
MVZ Martinsried, Medicover Genetics 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
Dasa 5 1 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 4 2 0 0 0 6
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
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago 2 3 0 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 0 1 0 0 0 5
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
Molecular Genetics, Royal Melbourne Hospital 2 1 1 0 1 0 5
OLLIN Analises Genomicas, OLLIN 5 0 0 0 0 0 5
Variantyx, Inc. 1 4 0 0 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 2 1 0 0 4
Genomic Medicine Lab, University of California San Francisco 3 1 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 1 0 0 0 4
Institute of Human Genetics, Heidelberg University 3 1 0 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 1 2 1 0 0 0 4
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 2 1 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 4
MGZ Medical Genetics Center 1 1 2 0 0 0 4
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 2 0 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 3 0 0 0 4
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital 4 0 0 0 0 0 4
Rare Disease Group, Clinical Genetics, Karolinska Institutet 3 1 0 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 2 0 1 0 0 0 3
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 2 1 0 0 0 0 3
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 3 0 0 0 0 0 3
Lifecell International Pvt. Ltd 2 1 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 0 2 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 1 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 3
Molecular and Clinical Genetics, Institute of Human Genetics P.A.S. 3 0 0 0 0 0 3
Myriad Genetics, Inc. 2 1 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 2 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 1 0 1 1 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 2 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 2 0 0 0 0 2
Blueprint Genetics 0 1 1 0 0 0 2
Breda Genetics srl, Breda Genetics srl 2 0 0 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 1 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 1 1 0 0 0 2
Department of Genetics, Sultan Qaboos University Hospital 0 0 1 1 0 0 2
Department of Medical Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 1 1 0 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 2 0 0 0 0 0 2
Department of Molecular Genetics, Istishari Arab Hospital 1 1 0 0 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
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 1 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
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 0 2 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 1 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Dobyns Lab, Seattle Children's Research Institute 2 0 0 0 0 0 2
Ege University Pediatric Genetics, Ege University 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Genotek, Genotek Ltd. 0 0 2 0 0 0 2
Gharavi Laboratory, Columbia University 0 2 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 2 0 0 0 0 0 2
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 2 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 1 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 1 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 1 0 0 0 2
Joe DiMaggio Children's Hospital, Memorial Healthcare System 2 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 0 1 0 0 0 2
Medical Genetics Clinic, University of Catania 0 0 2 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 2 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 1 0 0 0 0 2
Pars Genome Lab 1 0 0 1 0 0 2
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 1 0 0 0 0 2
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 2 0 0 0 0 2
Sheng Clinic, Gansu Aier Optometry Hospital 0 2 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 2
Universitätsklinikum Salzburg, Universitätskinderklinik 1 1 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
Cancer Diagnostics Division, Gene Solutions 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 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
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 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
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Department of Pediatrics, National Cheng-Kung University Hospital 0 1 0 0 0 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 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
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 0 1 0 1
Klinisk genetik och genomik Research, Gothenburg University 0 1 0 0 0 0 1
Leeds Institute of Medical Research, University of Leeds 0 1 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Molecular Genetics, Sadra Medical Genetics Laboratory 1 0 0 0 0 0 1
Next Generation Genetic Polyclinic 0 1 0 0 0 0 1
Ozbek Human Genetics Laboratory, Izmir Biomedicine and Genome Center 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1
School of Computer Science, University of Waterloo 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1

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