ClinVar Miner

Variants studied for disorder of metabolite absorption and transport

Included ClinVar conditions (85):
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 pathogenic, low penetrance risk factor not provided total
2046 1399 6355 8328 1595 2 1 150 18382

Gene and significance breakdown #

Total genes and gene combinations: 130
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance risk factor not provided total
ATP7B 521 532 1007 1083 60 0 0 15 2712
ATP7A 132 102 685 845 135 0 0 3 1770
CUBN 66 68 655 434 155 0 0 3 1268
HCFC1 6 1 115 672 255 0 0 0 1035
MTR 58 29 199 574 66 0 0 0 914
TFR2 70 72 126 612 34 0 0 23 847
MTRR 76 30 159 481 50 0 0 1 779
MTHFR 140 58 166 413 38 0 0 3 752
SLC19A3 56 21 260 227 46 0 0 1 585
TCN2 48 8 202 310 41 0 0 2 581
MMAA 81 61 171 198 22 0 0 16 499
CP 70 7 222 149 43 0 0 2 455
MMACHC 95 75 112 190 10 0 0 3 430
AMN 27 28 59 295 25 0 0 1 419
LMBRD1 28 22 110 235 24 0 0 2 407
MMAB 62 45 131 174 36 0 0 12 397
MMADHC 42 30 62 169 17 0 0 7 306
ABCD4 18 10 116 112 33 0 0 0 279
TPK1 29 14 106 89 4 0 0 0 236
HFE 33 15 72 122 10 2 1 6 235
FTCD 11 4 94 90 35 0 0 1 229
SLC40A1 29 27 71 90 31 0 0 0 227
TRPM6 26 4 124 36 25 0 0 0 213
FOLR1 16 3 112 83 5 0 0 0 209
SLC39A4 15 9 91 37 29 0 0 0 163
EGF 1 0 80 22 29 0 0 0 131
FTL 17 4 79 24 8 0 0 7 128
CLDN16 28 13 64 8 18 0 0 2 125
CBLIF 7 6 58 44 12 0 0 3 121
CD320 1 1 65 37 19 0 0 0 120
SARM1, SLC46A1 4 1 72 10 23 0 0 4 111
CNNM2 20 8 38 16 32 0 0 0 109
TCN1 4 0 44 46 9 0 0 0 103
SLC11A2 7 1 62 5 24 0 0 0 97
CLDN19 9 7 61 2 13 0 0 0 90
HJV 19 9 52 9 5 0 0 0 85
AMN, LOC130056554 5 5 13 62 1 0 0 0 84
SLC19A2 15 3 51 2 12 0 0 0 83
LOC113687175, TFR2 16 11 15 45 1 0 0 1 80
HAMP 4 1 23 50 6 0 0 0 77
MMAB, MVK 11 8 20 36 8 0 0 1 76
TF 4 3 36 10 16 0 0 0 68
SLC30A10 5 3 34 5 8 0 0 14 62
LOC129930446, MMACHC 23 12 14 18 0 0 0 0 57
ATP7B, TMEM272 0 0 44 2 5 0 0 0 51
LOC121853040, TCN2 1 0 19 18 4 0 0 0 41
SLC46A1 8 1 19 4 2 0 0 4 35
SLC25A19 9 2 15 5 3 0 0 2 34
HCFC1, LOC130068842 0 0 4 14 12 0 0 0 30
CP, HPS3 0 1 13 11 6 0 0 0 29
ATP1A1 5 2 7 0 13 0 0 0 27
FXYD2, FXYD6-FXYD2 1 0 6 7 15 0 0 0 26
AMN, LOC130056553 1 1 2 16 2 0 0 0 20
MIF4GD-DT, SLC25A19 3 0 7 3 6 0 0 0 19
CUBN, LOC126860871 1 2 5 7 3 0 0 0 17
LOC129932886, MTR 1 1 2 13 0 0 0 0 17
SLC39A14 9 2 0 1 4 0 0 8 17
COL6A2, FTCD 0 0 4 10 3 0 0 0 16
FTL, GYS1 0 0 1 13 2 0 0 0 16
LOC126806368, MMADHC 1 1 2 8 2 0 0 0 14
SLC30A9 3 5 2 0 6 0 0 0 14
ATP7B, LOC130009838 1 0 9 1 1 0 0 1 13
BEST1, FTH1 0 0 7 0 6 0 0 0 13
CUBN, LOC129390143 0 0 8 4 2 0 0 0 13
EGF, LOC126807134 0 0 6 1 4 0 0 0 11
DHFR, MSH3 0 0 0 0 9 0 0 0 9
LOC129931894, SLC19A2 2 0 7 0 0 0 0 0 9
LOC129998967, TFR2 0 0 0 7 0 0 0 0 7
FTH1, LOC399900 1 0 4 0 1 0 0 0 6
LOC130060550, SLC46A1 1 1 4 0 0 0 0 0 6
AP1S1, LOC126860125 1 2 0 1 1 0 0 0 5
ATP7A, PGK1 0 0 4 1 1 0 0 0 5
LOC129993163, MMAA 0 0 5 0 0 0 0 0 5
MMACHC, PRDX1 4 0 1 0 0 0 0 0 5
MTHFS, ST20-MTHFS 5 2 0 0 0 0 0 0 5
ALG11, ATP7B, UTP14C 4 0 0 0 0 0 0 0 4
FTL, LOC130064891 0 0 4 0 0 0 0 0 4
FTL, LOC130064892 0 0 1 2 1 0 0 0 4
LOC126806368, MMADHC, MMADHC-DT 0 0 3 1 0 0 0 0 4
LOC130001397, SLC39A4 1 0 4 0 0 0 0 0 4
ALG11, ATP7B 1 1 1 1 2 0 0 0 3
AP1S1 1 1 1 0 0 0 0 0 3
DHFR 2 0 1 0 0 0 0 0 3
FTL, GYS1, LOC130064893 0 0 0 3 0 0 0 0 3
LOC129935241, SLC40A1 0 0 1 0 2 0 0 0 3
NOBOX, TPK1 1 0 2 0 0 0 0 0 3
ANKRD34A, HJV, POLR3GL, TXNIP 1 0 1 0 0 0 0 0 2
ATP7A, ATRX, COX7B, MAGT1, PGAM4 1 0 1 0 0 0 0 0 2
ATP7A, PGAM4 0 0 0 1 1 0 0 0 2
BCO1 1 0 1 0 0 0 0 0 2
BMP6 0 0 2 0 0 0 0 0 2
CNNM2, LOC130004628 0 0 1 0 1 0 0 0 2
HSD3B7, STX1B 0 0 1 1 0 0 0 0 2
LOC130060548, SARM1, SLC46A1 0 0 2 0 0 0 0 0 2
MT-TF 1 0 1 0 0 0 0 0 2
SLC19A1 2 0 0 0 0 0 0 0 2
TSEN54 2 0 0 0 0 0 0 0 2
AGTR1, ANKUB1, COMMD2, CP, CPA3, CPB1, GYG1, HLTF, HPS3, RNF13, TM4SF1, TM4SF18, TM4SF4, WWTR1 1 0 0 0 0 0 0 0 1
ALG11, ATP7B, CCDC70, DHRS12, FAM124A, INTS6, RNASEH2B, SERPINE3, UTP14C, WDFY2 0 0 1 0 0 0 0 0 1
ALG11, ATP7B, LOC130009841 0 0 1 0 0 0 0 0 1
AMN, CDC42BPB, LOC130056553 1 1 0 0 0 0 0 1 1
AMN, LOC126862065, LOC130056550, LOC130056551, LOC130056552, LOC130056553, LOC130056554, TRAF3 1 0 0 0 0 0 0 0 1
ANAPC15, DEFB108B, DHCR7, FAM86C1P, FOLR1, FOLR3, IL18BP, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LRTOMT, NADSYN1, NUMA1, RNF121, ZNF705E 0 0 1 0 0 0 0 0 1
ARHGAP10, C4orf51, EDNRA, LSM6, MMAA, NR3C2, POU4F2, PRMT9, SLC10A7, TMEM184C, TTC29, ZNF827 1 0 0 0 0 0 0 0 1
ATP7A, ATRX, COX7B, MAGT1, PGAM4, PGK1 0 0 1 0 0 0 0 0 1
ATP7A, COX7B, MAGT1, PGAM4 0 0 1 0 0 0 0 0 1
ATP7B, LOC130009836, LOC130009837 1 0 0 0 0 0 0 0 1
C1orf167, MTHFR 0 0 1 0 0 0 0 0 1
C2orf83, SLC19A3 1 0 0 0 0 0 0 0 1
CACNB2, CUBN, HACD1, SLC39A12, ST8SIA6, STAM, TRDMT1, VIM 0 0 1 0 0 0 0 0 1
CENPT, THAP11 0 1 0 0 0 0 0 0 1
CLDN10 0 0 1 0 0 0 0 0 1
CLPB, FOLR1, FOLR2, INPPL1, PHOX2A 1 0 0 0 0 0 0 0 1
COL19A1, COL9A1, LMBRD1 1 0 0 0 0 0 0 0 1
DCDC2C 0 0 1 0 0 0 0 0 1
EGF, LOC129992959 0 0 1 0 0 0 0 0 1
EIF2AK3, LOC101928371 1 0 0 0 0 0 0 0 1
FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 0 0 1
FTL, GYS1, LOC119369037 0 0 0 1 0 0 0 0 1
LOC120893165, SLC19A2 0 0 1 0 0 0 0 0 1
LOC122152347, LOC129932886, MTR 1 0 0 0 0 0 0 0 1
LOC128092252, TRPM7 1 0 0 0 0 0 0 0 1
LOC129388752, SLC30A10 1 0 0 0 0 0 0 0 1
LOC129993631, MTRR 0 0 0 0 1 0 0 0 1
LOC129996828, RRAGD 0 1 0 0 0 0 0 0 1
MYO18A 0 0 0 0 0 0 0 1 1
PRDX1 0 0 0 0 1 0 0 0 1
RRAGD 1 0 0 0 0 0 0 0 1
SLC52A1 1 0 0 0 0 0 0 0 1
TRPM7 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 209
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1344 374 3564 7829 1095 2 0 0 14208
Illumina Laboratory Services, Illumina 21 7 1679 249 539 0 0 0 2495
Natera, Inc. 119 31 446 202 133 0 0 0 931
All of Us Research Program, National Institutes of Health 83 47 492 248 14 0 0 0 884
Fulgent Genetics, Fulgent Genetics 92 81 394 193 18 0 0 0 778
Genome-Nilou Lab 190 91 155 74 168 0 0 0 678
Baylor Genetics 310 288 74 0 0 0 0 0 672
Counsyl 67 187 137 6 0 0 0 0 397
OMIM 318 0 0 0 1 0 0 1 320
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 202 89 1 3 14 0 0 0 309
Revvity Omics, Revvity 62 48 118 2 0 0 0 0 230
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 223 0 0 0 0 0 223
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 41 19 45 33 70 0 0 0 208
GeneReviews 45 0 0 0 0 0 0 109 154
Myriad Genetics, Inc. 16 126 8 0 0 0 0 0 150
Genetic Services Laboratory, University of Chicago 92 21 3 0 0 0 0 0 116
Neuberg Centre For Genomic Medicine, NCGM 23 27 50 0 1 0 0 0 101
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 49 47 1 0 0 0 1 0 98
Mendelics 26 10 13 8 15 0 0 0 72
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 15 21 31 1 2 0 0 0 70
University Children's Hospital, University of Zurich 67 0 1 0 0 0 0 0 68
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 34 6 25 2 0 0 0 0 67
Color Diagnostics, LLC DBA Color Health 5 2 24 15 15 0 0 0 61
3billion 24 10 9 11 0 0 0 0 54
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 49 0 0 0 0 0 0 49
Juno Genomics, Hangzhou Juno Genomics, Inc 23 12 10 0 0 0 0 0 45
Baumgartner lab, University Children's Hospital Zurich 33 0 0 0 0 0 0 0 33
Laboratory of Molecular Genetics and Genomics, Rennes University Hospital 1 21 10 0 0 0 0 0 32
Genomic Research Center, Shahid Beheshti University of Medical Sciences 12 6 12 1 0 0 0 0 31
Inborn Errors of Metabolism Laboratory, Hospices Civils de Lyon 14 17 0 0 0 0 0 0 31
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 7 11 12 0 0 0 0 0 30
Centre for Mendelian Genomics, University Medical Centre Ljubljana 11 4 15 0 0 0 0 0 30
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 11 14 0 0 0 28
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 13 8 5 0 0 0 0 0 26
Institute of Human Genetics, University of Leipzig Medical Center 12 3 9 2 0 0 0 0 26
New York Genome Center 4 2 20 0 0 0 0 0 26
Pars Genome Lab 0 0 1 2 21 0 0 0 24
MGZ Medical Genetics Center 5 5 8 0 0 0 0 0 18
Dept of Medicine and Surgery, University of Milano-Bicocca 16 1 0 0 0 0 0 0 17
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 7 3 7 0 0 0 0 0 17
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 11 5 0 0 0 0 0 0 16
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 0 0 15 15
GenomeConnect, ClinGen 0 0 0 0 0 0 0 15 15
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 9 5 0 1 0 0 0 0 15
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 7 3 4 0 0 0 0 0 14
Centogene AG - the Rare Disease Company 8 1 4 0 0 0 0 0 13
MVZ Medizinische Genetik Mainz 4 3 6 0 0 0 0 0 13
Laboratory of Metabolic Disorders, Peking University First Hospital 12 0 0 0 0 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 0 7 1 0 0 0 0 12
SingHealth Duke-NUS Institute of Precision Medicine 3 5 4 0 0 0 0 0 12
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 6 2 3 0 0 0 0 0 11
SIB Swiss Institute of Bioinformatics 0 4 4 1 2 0 0 0 11
Physiology, Radboud University Medical Center 9 0 1 0 1 0 0 0 11
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 10 0 0 0 0 0 0 0 10
Elsea Laboratory, Baylor College of Medicine 4 0 5 0 0 0 0 0 9
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 8 1 0 0 0 0 0 0 9
Molecular Genetics, Royal Melbourne Hospital 5 2 1 0 1 0 0 0 9
Molecular Physiology Group, Radboudumc 5 1 0 3 0 0 0 0 9
Neurology Department, Peking University First Hospital 6 0 2 0 0 0 0 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 8 8
DASA 7 1 0 0 0 0 0 0 8
Genomics And Bioinformatics Analysis Resource, Columbia University 7 1 0 0 0 0 0 0 8
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 6 7
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 2 4 0 0 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 2 3 2 0 0 0 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 3 0 0 0 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 2 0 0 0 7
Johns Hopkins Genomics, Johns Hopkins University 3 1 3 0 0 0 0 0 7
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 3 2 0 0 0 0 0 7
Arcensus 5 2 0 0 0 0 0 0 7
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 6 0 0 0 0 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 1 0 0 0 6
Blueprint Genetics 4 0 2 0 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 3 0 0 0 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 2 0 0 0 0 0 0 6
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 4 1 1 0 0 0 0 0 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 3 1 2 0 0 0 0 0 6
Institute of Genomics, University of Tartu 3 3 0 0 0 0 0 0 6
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 3 3 0 0 0 0 0 0 6
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 3 3 0 0 0 0 0 0 6
BloodGenetics 3 2 0 0 0 0 0 0 5
Hadassah Hebrew University Medical Center 1 4 0 0 0 0 0 0 5
Undiagnosed Diseases Network, NIH 3 2 0 0 0 0 0 0 5
Genomic Medicine Lab, University of California San Francisco 3 1 1 0 0 0 0 0 5
Suma Genomics 2 3 0 0 0 0 0 0 5
Department of Human Genetics, Hannover Medical School 2 2 1 0 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 2 0 0 0 0 0 0 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 4 0 0 0 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 2 0 0 0 0 0 4
CSER _CC_NCGL, University of Washington 1 0 3 0 0 0 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 2 1 1 0 0 0 0 0 4
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 3 1 0 0 0 0 4
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 1 1 0 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 1 0 1 0 0 0 4
Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague 2 2 0 0 0 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 3 0 1 0 0 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 4 4
Institute of Immunology and Genetics Kaiserslautern 2 0 2 0 0 0 0 0 4
Breakthrough Genomics, Breakthrough Genomics 3 1 0 0 0 0 0 0 4
GenePathDx, GenePath diagnostics 1 1 0 1 0 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 1 0 0 0 0 0 0 3
Human Genetics Unit, University Of Colombo 0 3 0 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 0 0 3
Institute for Genomic Medicine, Nationwide Children's Hospital 1 2 0 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 0 0 3
Breda Genetics srl 1 1 1 0 0 0 0 0 3
Molecular Biology Laboratory, Fundació Puigvert 0 3 0 0 0 0 0 0 3
Lifecell International Pvt. Ltd 1 2 0 0 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 2 0 0 0 0 0 3
Palindrome, Gene Kavoshgaran Aria 3 0 0 0 0 0 0 0 3
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 2 0 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 0 1 1 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 1 0 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 0 0 2
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 0 0 2
Applied Translational Genetics Group, University of Auckland 2 0 0 0 0 0 0 0 2
Hemoglobin and Genome Lab, University of Campinas 0 2 0 0 0 0 0 0 2
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 2 0 0 0 0 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 1 0 0 0 0 0 0 2
deCODE genetics, Amgen 2 0 0 0 0 0 0 0 2
Genome Medicine, Institute for Basic Research in Developmental Disabilities 0 2 0 0 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 1 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 0 0 2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 1 0 0 0 0 0 0 2
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 0 2 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 0 0 2
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 2 0 0 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 1 0 0 0 0 0 2
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 2 0 0 0 0 0 0 0 2
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital 0 2 0 0 0 0 0 0 2
Precision Medicine Center, Zhengzhou University 1 0 1 0 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 1 0 0 0 0 0 2
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 1 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 0 0 0 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 1 0 0 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 1 0 0 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Clinic of Pediatric and Adolescent Medicine, University Hospital Ulm 1 0 0 0 0 0 0 0 1
Section on Translational Neuroscience, Molecular Medicine Program; NICHD; National Institutes of Health 0 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 0 1
Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg 1 0 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 0 1 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 0 0 1
Department of Medical Genetics, Gazi University 1 0 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 0 0 1
FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 0 0 0 0 0 0 1
Department of Hematology - Research Laboratory 1, Postgraduate Institute of Medical Education and Research 1 0 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 1
Gill Bejerano Lab, Stanford University 0 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 0 0 1
Grupo de Pesquisa Clinica e Molecular em Endocrinologia e Metabologia 1 0 0 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 0 0 0 1
Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics, Sofia University, St. Kliment Ohridski 0 1 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 0 1
Laboratory for Population and Evolutionary Genetics, University of Puerto Rico at Mayaguez 1 0 0 0 0 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 0 0 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 0 0 1
Biochemistry Laboratory, Bechir Hamza Children's Hospital 0 1 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 0 0 1
Biochemistry and Molecular Biology, CHU de Limoges 1 0 0 0 0 0 0 0 1
Clinical Genetics, CHU Rennes 1 0 0 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 1 0 0 0 0 0 0 0 1
Molecular Genetics, Georges Pompidou European Hospital 1 0 0 0 0 0 0 0 1
School of Computer Science, University of Waterloo 0 1 0 0 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 0 0 1
Credence Genomics 1 0 0 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 0 0 1
MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN 1 0 0 0 0 0 0 0 1
Génetica Clinica/ Bioquímica Clínica, Genética Hospital Universitario Miguel Servet 0 0 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 0 0 0 1
Newman Lab, University of Manchester 1 0 0 0 0 0 0 0 1
Department of Hematology, Children's Hospital Affiliated to Kunming Medical University 1 0 0 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 0 0 1
Department Of Obstetrics And Gynecology, Genetic And Prenatal Diagnosis Center 0 1 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 0 1 0 0 0 0 0 1
UAEU Genomics Laboratory, United Arab Emirates University 1 0 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 0 1
Newborn Screening Center, Zibo Maternal and Child Health Care Hospital 0 1 0 0 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 0 1 0 0 0 0 0 1
Centre de Recherche et de Formation en Génétique Médicale et en Neurosciences, Université des Sciences, des Techniques et des Technologies de Bamako 0 0 1 0 0 0 0 0 1

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