ClinVar Miner

Variants studied for classic organic aciduria

Included ClinVar conditions (47):
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
2092 2163 5627 6869 1061 133 16453

Gene and significance breakdown #

Total genes and gene combinations: 100
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PCCA 184 200 394 637 41 6 1332
PCCB 158 177 343 553 18 16 1144
HCFC1 6 1 130 712 259 0 1094
CUBN 26 81 681 82 83 0 945
HLCS 97 130 274 441 50 0 904
ACSF3 110 138 155 419 49 0 784
MCCC1 126 125 263 321 26 1 771
IVD 86 144 185 345 38 0 713
MCCC2 116 145 235 266 30 1 705
ACAT1 149 127 148 325 35 0 699
BTD 173 192 205 213 15 6 639
MMAA 82 73 198 205 23 16 542
OPA3 9 21 306 148 36 5 509
CLPB 26 11 270 180 19 16 502
HMGCL 65 59 127 256 14 0 483
MMACHC 97 81 137 196 10 3 459
LMBRD1 30 31 110 249 25 2 433
MMAB 63 50 148 182 36 12 424
TAFAZZIN 47 49 160 166 10 0 405
MMUT 132 111 121 26 14 31 382
ABCD4 19 26 119 129 33 0 314
MMADHC 42 30 62 176 17 7 312
SERAC1 35 18 117 116 32 2 294
ACADSB 19 29 155 57 45 1 280
ACAD8 24 15 115 54 15 1 205
AUH 17 11 85 54 9 0 164
HIBCH 22 21 57 56 16 0 158
DNAJC19 13 8 46 51 5 1 121
CLPB, LOC130006336 2 1 55 30 3 0 90
MMAB, MVK 11 8 26 37 7 1 82
ACSF3, LOC125177393 7 10 15 47 5 0 78
LOC129930446, MMACHC 24 13 17 19 0 0 62
CLPB, LOC126861258 7 2 27 26 1 4 61
LOC130064709, OPA3 3 5 20 21 3 1 49
AUH, LOC130002059 6 0 24 11 3 0 44
DNASE1L1, LOC130068869, TAFAZZIN 2 4 20 18 1 0 43
HCFC1, LOC130068842 0 0 4 14 12 0 30
TIMM50 9 2 6 2 4 0 23
DNASE1L1, TAFAZZIN 3 2 6 6 1 0 17
GGACT, PCCA 5 0 8 4 0 0 17
LOC126806368, MMADHC 1 1 2 8 2 0 14
LOC129938008, MCCC1 0 2 6 3 3 0 13
CUBN, LOC129390143 0 1 8 0 1 0 10
CUBN, LOC126860871 0 1 6 0 2 0 9
HTRA2 1 2 2 2 1 0 8
HLCS, LOC130066639 0 0 1 0 6 0 7
HTRA2, LOXL3 3 1 1 0 0 0 5
LOC129993163, MMAA 0 0 5 0 0 0 5
MMACHC, PRDX1 4 0 1 0 0 0 5
GALE, HMGCL 3 0 0 0 1 0 4
LOC126806368, MMADHC, MMADHC-DT 0 0 3 1 0 0 4
HTRA2, LOC129934143 1 0 2 0 0 0 3
UQCRFS1 3 0 0 0 0 0 3
AMN 1 0 1 0 0 0 2
LOC130010061, PCCA 0 0 0 2 0 0 2
TSEN54 2 0 0 0 0 0 2
​intergenic 0 0 1 0 0 0 1
ABCC5, ABCF3, ALG3, AP2M1, B3GNT5, CAMK2N2, CLCN2, DVL3, ECE2, EIF2B5, EIF4G1, FAM131A, HTR3C, HTR3D, HTR3E, KLHL24, KLHL6, LAMP3, MAP6D1, MCCC1, MCF2L2, MIR1224, PARL, POLR2H, PSMD2, THPO, VWA5B2, YEATS2 1 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 1
ACAD8, IGSF9B, JAM3, NCAPD3, THYN1, VPS26B 1 0 0 0 0 0 1
ACADSB, ARMS2, ATE1, BTBD16, C10orf120, C10orf88, CUZD1, DMBT1, FAM24A, FAM24B, FGFR2, HTRA1, IKZF5, NSMCE4A, PLEKHA1, PSTK, TACC2 1 0 0 0 0 0 1
ACADSB, IKZF5, LOC130004876 0 0 0 0 1 0 1
ACADSB, LOC130004876 0 0 0 1 0 0 1
ACAT1, ACAT2 1 0 0 0 0 0 1
ACAT1, ATM, C11orf65, EXPH5, NPAT, POGLUT3 0 0 1 0 0 0 1
ACAT1, LOC129390351 1 0 0 0 0 0 1
ACAT2, AGPAT4, AIRN, DYNLT1, EZR, FNDC1, GTF2H5, IGF2R, LINC02901, LPA, MAP3K4, MAS1, MRPL18, PLG, PNLDC1, PRKN, RSPH3, SERAC1, SLC22A1, SLC22A2, SLC22A3, SOD2, SYTL3, TAGAP, TCP1, TMEM181, TULP4, WTAP 1 0 0 0 0 0 1
AIFM1, RAB33A 0 0 1 0 0 0 1
AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALPL, ASAP3, C1QA, C1QB, C1QC, CAMK2N1, CAPZB, CDA, CDC42, CELA3A, CELA3B, CNR2, DDOST, E2F2, ECE1, EIF4G3, ELOA, EMC1, EPHA8, EPHB2, FAM43B, FUCA1, GALE, GRHL3, HMGCL, HNRNPR, HP1BP3, HSPG2, HTR1D, HTR6, ID3, IFFO2, IFNLR1, IL22RA1, KDM1A, KIF17, LACTBL1, LDLRAD2, LUZP1, LYPLA2, MDS2, MICOS10, MICOS10-NBL1, MRTO4, MUL1, MYOM3, NBL1, NBPF3, OTUD3, PINK1, PITHD1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, PNRC2, RAP1GAP, RNF186, RPL11, SH2D5, SLC66A1, SRSF10, STPG1, TCEA3, TEX46, TMCO4, UBR4, UBXN10, USP48, VWA5B1, WNT4, ZBTB40, ZNF436 0 0 1 0 0 0 1
AMN, CDC42BPB, LOC130056553 1 0 0 0 0 0 1
ANAPC15, ARAP1, ARHGEF17, ARRB1, ATG16L2, C2CD3, CHRDL2, CLPB, COA4, DEFB108B, DHCR7, DNAJB13, FAM168A, FAM86C1P, FCHSD2, FOLR1, FOLR2, FOLR3, GDPD5, IL18BP, INPPL1, KCNE3, KLHL35, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LIPT2, LRTOMT, MIR139, MIR326, MRPL48, NADSYN1, NEU3, NUMA1, OR2AT4, P2RY2, P2RY6, P4HA3, PAAF1, PDE2A, PGM2L1, PHOX2A, PLEKHB1, POLD3, PPME1, RAB6A, RELT, RNF121, RNF169, RPS3, SERPINH1, SLCO2B1, SNORD15A, SPCS2, STARD10, TPBGL, UCP2, UCP3, XRRA1, ZNF705E 0 0 1 0 0 0 1
ARHGAP10, C4orf51, EDNRA, LSM6, MMAA, NR3C2, POU4F2, PRMT9, SLC10A7, TMEM184C, TTC29, ZNF827 1 0 0 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 1
ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 1
AUH, NFIL3, ROR2 0 0 1 0 0 0 1
BDP1, MCCC2 0 0 1 0 0 0 1
BIVM, BIVM-ERCC5, CCDC168, CLYBL, ERCC5, FGF14, GGACT, ITGBL1, METTL21C, NALCN, PCCA, POGLUT2, SLC10A2, TEX30, TM9SF2, TMTC4, TPP2, UBAC2, ZIC2, ZIC5 0 0 1 0 0 0 1
BTD, COLQ, HACL1 1 0 0 0 0 0 1
CBR1, CBR3, CHAF1B, CLDN14, DOP1B, HLCS, MORC3, SETD4, SIM2 0 0 1 0 0 0 1
CCDC39, DNAJC19, FXR1 1 0 0 0 0 0 1
CENPT, THAP11 1 1 0 0 0 0 1
CHAF1B, CLDN14, HLCS, MORC3, SIM2 1 0 0 0 0 0 1
CLPB, LOC124500684, LOC126861258, LOC126861259, LOC130006330, LOC130006331, LOC130006332, LOC130006333, LOC130006334, LOC130006335, LOC130006336 1 0 0 0 0 0 1
COL19A1, COL9A1, LMBRD1 1 0 0 0 0 0 1
DCDC2C 0 0 1 0 0 0 1
FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 1
FUCA1, HMGCL 1 0 0 0 0 0 1
GALE, HMGCL, LOC129929682 0 0 0 1 0 0 1
HTRA2, LOC129934140 0 0 1 0 0 0 1
HTRA2, LOC129934141 0 1 0 0 0 0 1
LOC112163638, LOC124946329, PCCA 0 1 0 0 0 0 1
LOC124946329, PCCA 1 0 0 0 0 0 1
MAN2B1 1 0 0 0 0 0 1
MLKL 0 0 0 1 0 0 1
MT-TL1 1 0 0 0 0 0 1
OPA1 1 0 0 0 0 0 1
PAH 0 1 0 0 0 0 1
PEX16 0 0 1 0 0 0 1
PRDX1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 162
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1535 529 3103 6568 686 0 12421
Illumina Laboratory Services, Illumina 19 13 1281 146 332 0 1790
Fulgent Genetics, Fulgent Genetics 197 522 810 126 8 0 1663
Baylor Genetics 365 712 93 0 0 0 1170
Natera, Inc. 127 43 524 122 106 0 922
Counsyl 96 270 229 17 0 0 612
Genome-Nilou Lab 54 32 139 50 158 0 433
Revvity Omics, Revvity 79 74 155 1 0 0 309
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 170 123 1 0 0 0 294
OMIM 242 0 0 0 0 0 242
Myriad Genetics, Inc. 14 132 9 0 0 0 155
GeneReviews 1 0 0 0 0 112 113
Department of Pediatrics, Gifu University 44 44 18 0 0 0 106
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 33 29 25 4 1 0 92
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 10 4 15 7 36 0 72
Mendelics 41 8 11 4 6 0 70
Neuberg Centre For Genomic Medicine, NCGM 18 18 32 0 0 0 68
University Children's Hospital, University of Zurich 60 0 1 0 0 0 61
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 10 31 17 0 0 0 58
Pars Genome Lab 0 0 2 6 47 0 55
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 38 0 0 0 2 0 40
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 22 3 15 0 0 0 40
Juno Genomics, Hangzhou Juno Genomics, Inc 19 12 7 0 0 0 38
Genomic Research Center, Shahid Beheshti University of Medical Sciences 12 6 17 1 0 0 36
3billion, Medical Genetics 20 5 5 5 0 0 35
Baumgartner lab, University Children's Hospital Zurich 33 0 0 0 0 0 33
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 15 17 0 0 0 0 32
Laboratory of Metabolic Disorders, Peking University First Hospital 13 17 0 0 0 0 30
Elsea Laboratory, Baylor College of Medicine 8 0 17 2 0 0 27
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 13 11 0 0 0 0 24
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 10 12 2 0 0 0 24
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 3 19 0 0 0 0 22
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 6 13 0 20
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 9 11 0 0 0 0 20
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 10 4 6 0 0 0 20
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 8 9 1 1 0 0 19
New York Genome Center 4 5 10 0 0 0 19
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 10 6 3 0 0 0 19
Institute of Human Genetics, University of Leipzig Medical Center 8 3 6 1 0 0 18
Centre for Mendelian Genomics, University Medical Centre Ljubljana 7 2 7 0 0 0 16
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 9 4 3 0 0 0 16
MGZ Medical Genetics Center 4 5 6 0 0 0 15
GenomeConnect, ClinGen 0 0 0 0 0 15 15
Genetics and Molecular Pathology, SA Pathology 6 5 3 0 0 0 14
SingHealth Duke-NUS Institute of Precision Medicine 6 3 5 0 0 0 14
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 10 4 0 0 0 0 14
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 9 4 0 0 0 0 13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 6 6 0 0 0 0 12
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 10 1 0 0 0 0 11
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 9 2 0 0 0 0 11
DASA 10 1 0 0 0 0 11
Centogene AG - the Rare Disease Company 3 3 3 0 0 0 9
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories 8 0 0 0 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 4 0 0 0 8
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 2 2 0 0 0 8
Suma Genomics 4 2 2 0 0 0 8
Genetic Services Laboratory, University of Chicago 6 1 0 0 0 0 7
Division of Human Genetics, Children's Hospital of Philadelphia 5 0 2 0 0 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 2 0 1 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 2 0 0 0 0 7
Neurology Department, Peking University First Hospital 6 0 1 0 0 0 7
SIB Swiss Institute of Bioinformatics 0 5 2 0 0 0 7
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 4 1 2 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 6 0 1 0 0 0 7
Mayo Clinic Laboratories, Mayo Clinic 1 0 5 0 0 0 6
Center for Molecular Medicine, Children’s Hospital of Fudan University 4 2 0 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 3 0 3 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 3 0 0 0 0 6
Lifecell International Pvt. Ltd 4 2 0 0 0 0 6
MVZ Medizinische Genetik Mainz 3 1 2 0 0 0 6
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 3 0 0 0 5
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 3 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 1 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 3 0 5
Department of Human Genetics, Hannover Medical School 3 2 0 0 0 0 5
Arcensus 1 4 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 2 0 4
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 4 4
Undiagnosed Diseases Network, NIH 3 1 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 2 0 2 0 0 0 4
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 2 2 0 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 4 0 0 0 0 0 4
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 4 0 0 0 0 0 4
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 1 0 1 0 0 3
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 2 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 1 0 0 0 0 3
Kids Research, The Children's Hospital at Westmead 2 0 1 0 0 0 3
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 2 0 0 0 3
Pediatric Department, Xiangya Hospital, Central South University 0 0 3 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 3 0 0 0 3
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 2 1 0 0 0 0 3
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 2 1 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Ege University Pediatric Genetics, Ege University 1 1 0 0 0 0 2
Yoda Diagnostics Pvt Ltd, YODA Diagnostics Pvt Ltd 2 0 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 2 0 0 0 0 0 2
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 2
laboratory of biochemistry, Caen University Hospital 2 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 2
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 1 1 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 0 0 2
Precision Medicine Center, Zhengzhou University 1 0 1 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 0 1 0 0 0 2
Dr.Nikuei Genetic Center 1 0 0 0 1 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 1
Bonnen Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Sidra Medicine 0 0 0 1 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 0 1 0 0 0 1
Department of Medical Genetics, Gazi University 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Department of Immunology, University Hospital Southampton NHSFT 0 1 0 0 0 0 1
Mitochondrial Research Group, Murdoch Children's Research Institute 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Pediatric Metabolic Diseases, Hacettepe University 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Division of Genetic Medicine, Lausanne University Hospital 0 0 0 0 1 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Laboratory of Genetics and Genomics, Institute for Developing Science and Health Initiatives Foundation 1 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Department of biochemistry and genetics, Arak University of Medical sciences 0 1 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 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
Ro'ya Specialized Medical Laboratories, King Abdulaziz University 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 1
School of Computer Science, University of Waterloo 1 0 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 1 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 1
Unidad De Genómica, Hospital Infantil Universitario Niño Jesús 0 1 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 0 1
Neonatal Intensive Care Unit, Jiangxi Provincial Children's Hospital 0 1 0 0 0 0 1
Laboratory of Basic Medicine, Dongfang Hospital of Xiamen University 0 1 0 0 0 0 1
Al Jenan Medical 0 1 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 1

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