ClinVar Miner

Variants studied for congenital hypogonadotropic hypogonadism

Included ClinVar conditions (69):
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 association not found not provided total
1008 360 2577 2145 726 1 28 6512

Gene and significance breakdown #

Total genes and gene combinations: 112
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not found not provided total
CHD7 405 121 808 993 350 1 4 2514
BTK 147 35 142 172 49 0 0 533
RAB3GAP2 11 9 263 216 39 0 3 512
SEMA3E 0 1 289 198 27 0 0 509
DCAF17 26 11 128 206 43 0 1 402
NR0B1 90 15 41 141 37 0 0 309
MAGEL2 26 23 81 5 1 0 5 136
CHD7, LOC126860403 21 2 54 47 18 0 0 132
GNRHR 25 9 75 8 17 0 0 128
CAST, LOC101929710, PCSK1 12 7 87 7 4 0 0 117
LHX3 12 3 75 18 11 0 0 110
TBX19 13 5 60 3 19 0 0 98
PROP1 19 37 38 12 11 0 5 96
HESX1 17 4 55 20 5 0 0 91
LEPR 5 3 61 7 7 0 0 81
GHRHR 12 9 42 4 9 0 0 76
LEP 4 1 62 6 3 0 0 76
DCAF17, METTL8 8 1 19 31 2 0 0 59
ACBD6, LHX4 5 0 25 8 11 0 1 50
POU1F1 26 9 16 0 1 0 1 49
PNPLA6 12 8 11 0 13 0 7 48
GH-LCR, GH1 22 4 12 5 3 0 0 44
SMCHD1 20 0 9 2 12 0 0 42
OTX2 1 1 24 4 5 0 0 34
RNF216 11 3 13 2 0 0 0 28
LHX4 2 1 15 6 4 0 0 25
DMXL2 1 0 7 2 12 0 0 21
ARHGAP35 0 9 5 3 0 0 0 17
RNPC3 9 1 2 0 2 0 0 14
HERC2 1 0 8 2 0 0 0 11
FGFR1 0 8 1 0 0 0 0 9
LEPR, LEPROT 0 0 4 1 1 0 0 6
RBM28 2 2 2 0 0 0 0 6
​intergenic 3 0 2 0 0 0 0 5
CCDC141 0 0 2 3 0 0 0 5
CHMP2B, POU1F1 0 0 0 1 5 0 0 5
LEPR, LOC122094844 0 0 4 0 1 0 0 5
HS6ST1 0 1 0 3 1 0 0 4
NDN 0 0 4 0 0 0 0 4
RPE65 1 0 3 0 0 0 0 4
SIM1 0 0 4 0 0 0 0 4
SOX3 2 0 0 1 1 0 0 4
MED13 3 0 0 0 0 0 0 3
POLR3B 1 1 1 0 0 0 0 3
ROBO1 2 1 0 0 0 0 0 3
WDR11 0 0 2 1 0 0 0 3
ANOS1 1 1 0 0 0 0 0 2
ARHGAP5 0 1 1 0 0 0 0 2
ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 2 0 0 0 0 0 0 2
ATP10A, GABRA5, GABRB3, GABRG3, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 2 0 0 0 0 0 0 2
AXL 0 0 0 2 0 0 0 2
BPNT1, EPRS1, IARS2, MIR194-1, MIR215, RAB3GAP2, SLC30A10 0 0 2 0 0 0 0 2
CRIPT 2 0 0 0 0 0 0 2
GH1 2 0 0 0 0 0 0 2
KLB 0 0 2 0 0 0 0 2
LOC108281134, SOX3 0 0 1 0 1 0 0 2
NPAP1 0 0 0 2 0 0 0 2
RALGAPB 0 2 0 0 0 0 0 2
APBA2, ARHGAP11A, ARHGAP11B, ATP10A, CHRFAM7A, CHRNA7, CYFIP1, ENTREP2, FAN1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA8H, GOLGA8J, GOLGA8M, GOLGA8N, GOLGA8O, HERC2, IPW, KLF13, MAGEL2, MIR211, MKRN3, MTMR10, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, OR4M2, OR4N4, OTUD7A, POTEB, POTEB2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TJP1, TRPM1, TUBGCP5, UBE3A 1 0 0 0 0 0 0 1
APPL1, ASB14, HESX1, IL17RD 0 0 1 0 0 0 0 1
ARID1A 1 0 0 0 0 0 0 1
ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX6, BTK, CENPI, CSTF2, DRP2, GLA, HNRNPH2, NOX1, NXF5, PCDH19, RPL36A, RPL36A-HNRNPH2, SRPX2, SYTL4, TAF7L, TIMM8A, TMEM35A, TNMD, TRMT2B, TSPAN6, XKRX 0 0 1 0 0 0 0 1
ASPH, CA8, CHD7, CLVS1, NKAIN3, RAB2A 1 0 0 0 0 0 0 1
ASPH, CA8, CHD7, CLVS1, RAB2A 0 0 1 0 0 0 0 1
ASPH, CHD7, CLVS1 1 0 0 0 0 0 0 1
ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L2, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 1 0 0 0 0 0 0 1
ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 1 0 0 0 0 0 0 1
ATP6AP1, CTAG1A, CTAG1B, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A 0 1 0 0 0 0 0 1
BBIP1 1 0 0 0 0 0 0 1
BPNT1, C1orf115, EPRS1, IARS2, LYPLAL1, MARK1, MIR194-1, MIR215, MTARC1, MTARC2, RAB3GAP2, SLC30A10, TGFB2 1 0 0 0 0 0 0 1
BRCA2 1 0 0 0 0 0 0 1
BTK, GLA, HNRNPH2, RPL36A, RPL36A-HNRNPH2 1 0 0 0 0 0 0 1
BTK, GLA, RPL36A, RPL36A-HNRNPH2 0 0 1 0 0 0 0 1
BTK, TIMM8A 1 0 0 0 0 0 0 1
CACNA2D1, HGF, PCLO, SEMA3A, SEMA3D, SEMA3E 0 0 1 0 0 0 0 1
CHD7, LOC126860403, LOC130000466, LOC130000467, LOC130000468 1 0 0 0 0 0 0 1
CSHL1, GH-LCR, GH1 0 0 1 0 0 0 0 1
CYFIP1, GOLGA6L1, GOLGA6L2, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, PWRN1, PWRN2, SNRPN, TUBGCP5 1 0 0 0 0 0 0 1
DMD, FTHL17, GK, IL1RAPL1, LOC108410393, LOC113875019, LOC116309149, LOC116309150, LOC121627963, LOC125446277, LOC126863234, LOC126863235, LOC126863236, LOC129391296, LOC129391297, LOC130068072, LOC130068073, LOC130068074, LOC130068075, LOC130068076, LOC130068077, LOC130068078, LOC130068079, LOC130068080, LOC130068081, LOC130068082, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR3915, MIR4666B, MIR6134, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 1
DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 1
DMD, FTHL17, GK, LOC108410393, LOC113875019, LOC116309149, LOC116309150, LOC121627963, LOC125446277, LOC126863236, LOC130068074, LOC130068075, LOC130068076, LOC130068077, LOC130068078, LOC130068079, LOC130068080, LOC130068081, LOC130068082, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 1
DMXL2, LOC126862131 0 0 1 0 0 0 0 1
DNA2 0 1 0 0 0 0 0 1
EP300 0 1 0 0 0 0 0 1
FEZF1 0 0 0 1 0 0 0 1
IGSF10 0 0 1 0 0 0 0 1
IL1RAPL1, LOC108410393, LOC113875019, LOC116309149, LOC116309150, LOC126863235, LOC126863236, LOC130068072, LOC130068073, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR4666B, NR0B1, TASL 1 0 0 0 0 0 0 1
KDM6A 0 1 0 0 0 0 0 1
KMT2D 0 1 0 0 0 0 0 1
LEP, LOC106728418 0 0 0 1 0 0 0 1
LOC108281177, SOX2, SOX2-OT 1 0 0 0 0 0 0 1
LOC108410393, NR0B1 1 0 0 0 0 0 0 1
LOC129931062, RNPC3 0 0 1 0 0 0 0 1
LOC129998730, SEMA3E 0 0 1 0 0 0 0 1
LOC130062084, SMCHD1 0 0 0 0 1 0 0 1
MCOLN1, PNPLA6 0 0 0 1 0 0 0 1
POC1A 0 1 0 0 0 0 0 1
PROKR2 0 1 0 0 0 0 0 1
PUF60 0 1 0 0 0 0 0 1
RAB3GAP1 0 0 0 0 0 0 1 1
RERE 0 1 0 0 0 0 0 1
RYR1 0 0 1 0 0 0 0 1
SEMA3A 0 0 1 0 0 0 0 1
SEMA3A, SEMA3E 0 0 1 0 0 0 0 1
SHH 1 0 0 0 0 0 0 1
SNHG14, SNRPN, SNURF 1 0 0 0 0 0 0 1
SYNE2 0 0 1 0 0 0 0 1
TAC3 0 1 0 0 0 0 0 1
TACR3 0 1 0 0 0 0 0 1
TNFRSF1A 1 0 0 0 0 0 0 1
TUBB3 0 0 1 0 0 0 0 1
XRCC4 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 183
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not found not provided total
Labcorp Genetics (formerly Invitae), Labcorp 467 74 1392 1942 525 0 0 4400
Illumina Laboratory Services, Illumina 5 2 741 89 146 0 0 983
Fulgent Genetics, Fulgent Genetics 18 4 207 134 14 0 0 377
OMIM 226 0 1 0 0 0 0 227
Baylor Genetics 42 20 49 0 0 0 0 111
Genome-Nilou Lab 0 0 0 0 75 0 0 75
Revvity Omics, Revvity 11 6 49 0 0 0 0 66
Natera, Inc. 6 2 22 19 11 0 0 60
3billion 25 16 7 10 0 0 0 58
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 22 6 22 2 0 0 0 52
Genetic Services Laboratory, University of Chicago 32 3 10 0 2 0 0 47
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 10 13 18 1 0 0 0 42
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 37 5 0 0 0 0 0 42
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 26 3 6 0 6 0 0 41
Centre for Mendelian Genomics, University Medical Centre Ljubljana 7 3 28 0 2 0 0 40
Mendelics 14 2 5 11 7 0 0 39
New York Genome Center 3 1 35 0 0 0 0 39
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 24 0 8 1 1 0 0 34
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 21 11 0 1 1 0 0 34
Counsyl 3 18 7 0 1 0 0 29
Reproductive Endocrine Unit, Massachusetts General Hospital 1 12 12 3 0 0 0 28
Institute of Human Genetics, University of Leipzig Medical Center 10 7 9 0 0 0 0 26
Juno Genomics, Hangzhou Juno Genomics, Inc 9 6 6 0 0 0 0 21
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital 20 0 0 0 0 0 0 20
University of Washington Center for Mendelian Genomics, University of Washington 0 20 0 0 0 0 0 20
Center for Human Genetics, Inc, Center for Human Genetics, Inc 5 6 5 2 1 0 0 19
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 12 1 5 0 0 0 0 18
GeneReviews 0 0 0 0 0 0 16 16
Endocrinology Clinic, Seth G.S. Medical College 9 7 0 0 0 0 0 16
Neuberg Centre For Genomic Medicine, NCGM 4 2 10 0 0 0 0 16
MGZ Medical Genetics Center 1 6 8 0 0 0 0 15
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 13 2 0 0 0 0 0 15
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 15 0 0 0 0 0 0 15
Chan Lab, Boston Children's Hospital 0 13 0 0 0 0 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 8 2 0 0 0 12
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 2 1 9 0 0 12
Center for Molecular Medicine, Children’s Hospital of Fudan University 5 6 0 0 0 0 0 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 2 1 0 0 0 0 11
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 8 2 0 0 0 0 0 10
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 9 0 0 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 0 5 0 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 9 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 4 1 0 0 0 8
Daryl Scott Lab, Baylor College of Medicine 7 0 1 0 0 0 0 8
Laboratoire de Genetique Biologique, CHU de Poitiers 7 1 0 0 0 0 0 8
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 6 0 0 0 0 0 8
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 3 4 0 0 0 0 8
MVZ Medizinische Genetik Mainz 0 0 8 0 0 0 0 8
Genetics and Molecular Pathology, SA Pathology 4 1 2 0 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 1 1 0 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 4 0 0 0 0 0 6
Institute of Human Genetics, University of Goettingen 3 2 1 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 2 0 0 0 0 0 6
Institute of Human Genetics, Cologne University 2 3 1 0 0 0 0 6
Genomic Medicine Lab, University of California San Francisco 5 1 0 0 0 0 0 6
Lifecell International Pvt. Ltd 1 5 0 0 0 0 0 6
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 4 0 0 0 0 6
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 4 2 0 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 1 0 0 0 0 0 5
Undiagnosed Diseases Network, NIH 3 1 1 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 5 5
Molecular Genetics, Royal Melbourne Hospital 0 0 3 0 2 0 0 5
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 3 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 3 0 0 0 0 4
Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences 4 0 0 0 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 3 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 4 0 0 0 0 0 0 4
Autoinflammatory diseases unit, CHU de Montpellier 4 0 0 0 0 0 0 4
Molecular Genetics Laboratory, Motol Hospital 2 2 0 0 0 0 0 4
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 3 1 0 0 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 4 4
Athena Diagnostics 0 0 0 0 3 0 0 3
Human Developmental Genetics Laboratory, Medical College of Wisconsin 3 0 0 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 3 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 2 0 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 2 0 0 0 0 3
Hadassah Hebrew University Medical Center 1 2 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 0 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 0 3
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 2 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 1 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 0 0 0 0 0 3
Laboratory of Medical Genetics, University of Torino 1 2 0 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 3 0 0 0 0 0 0 3
DASA 2 1 0 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 2 0 0 0 0 3
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 3 0 0 0 0 0 0 3
Molecular Endocrinology Laboratory, Christian Medical College 0 1 2 0 0 0 0 3
Provincial Medical Genetics Program of British Columbia, University of British Columbia 3 0 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 2 0 0 0 0 0 0 2
Shaikh Laboratory, University of Colorado 0 2 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 2 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 0 0 0 0 0 0 2
GenePathDx, GenePath diagnostics 0 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 1 1 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 2 0 0 0 0 2
The Translational Medicine Center of Children Development and Disease, Fudan University 2 0 0 0 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 1 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 1 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 0 2
Myriad Genetics, Inc. 2 0 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 0 2
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 1 0 0 0 0 2
Department of Pediatric Endocrinology, Ondokuz Mayis University 2 0 0 0 0 0 0 2
Department of Pediatrics, Taipei Veterans General Hospital 1 1 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 2 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 0 2
Division of Pediatric Endocrinology and Diabetes, Ulm University Medical Center 2 0 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 1 0 0 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 1 0 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 0 1 0 0 0 0 1
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 1 0 0 0 0 0 0 1
State Key Lab of Medical Genetics, Central South University 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 0 0 1
Genologica Medica 0 1 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 0 1
Department of Molecular Endocrinology, National Research Institute for Child Health and Development 1 0 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 1 0 0 0 0 0 0 1
Human Molecular Genetics Lab, Quaid-I-Azam University 1 0 0 0 0 0 0 1
Research Centre for Medical Genetics, Research Centre for Medical Genetics 0 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 0 1
Santos-Cortez Lab, University of Colorado School of Medicine 0 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 1
Gujarat Genomics Initiative, Gujarat State Biotechnology Mission 1 0 0 0 0 0 0 1
Center for Medical Genetics, Keio University School of Medicine 1 0 0 0 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 0 1
Fukami Lab, Dept of Molecular Endocrinology, National Research Institute for Child Health and Development 1 0 0 0 0 0 0 1
Pediatric Genomics Discovery Program, Yale University 1 0 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 1
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University 0 0 1 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 0 1
Clinical Immunology, Karolinska University Hospital 1 0 0 0 0 0 0 1
Genetic Outpatient Clinic, Children's Memorial Health Institute 0 1 0 0 0 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 0 1 0 0 0 0 1
Genetics, Children's Hospital New Orleans 0 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 0 1 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 0 0 1 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 1 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 0 1
Department of Endocrinology, Metabolism and Genetics, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University 0 1 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 0 0 1 0 0 0 0 1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 0 0 0 1 0 1
Institute of Biomedical Sciences, Faculty of Medicine, Vilnius university 1 0 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 1
Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University 1 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 0 1
Hebei Industrial Technology Research Institute of Genomics in Maternal & Child Health, BGI Genomics 1 0 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 0 1 0 0 0 0 0 1

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