ClinVar Miner

Variants studied for classic organic aciduria

Included ClinVar conditions (46):
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
1998 1864 4971 6455 1051 133 15103

Gene and significance breakdown #

Total genes and gene combinations: 101
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PCCA 177 181 380 590 40 6 1254
PCCB 148 161 341 515 18 16 1085
HCFC1 6 1 111 672 255 0 1032
HLCS 91 119 265 430 50 0 871
ACSF3 110 122 152 404 48 0 754
MCCC1 121 106 252 305 26 1 729
IVD 82 125 182 334 38 0 686
ACAT1 148 115 145 316 35 0 681
MCCC2 103 131 234 258 30 1 673
BTD 166 168 194 200 14 6 603
CUBN 19 16 310 74 83 0 500
MMAA 81 61 171 197 22 16 499
OPA3 9 17 287 146 36 5 487
HMGCL 62 54 127 245 14 0 466
CLPB 25 9 228 156 19 16 434
MMACHC 95 75 112 190 10 3 430
LMBRD1 28 22 110 235 24 2 407
MMAB 62 44 131 174 36 12 396
MMUT 128 109 121 26 14 31 376
TAFAZZIN 45 47 142 141 10 0 358
MMADHC 43 30 60 169 17 7 305
ABCD4 18 10 116 112 33 0 279
ACADSB 18 19 150 52 44 1 261
SERAC1 34 15 113 91 31 2 261
ACAD8 21 15 113 48 15 1 194
AUH 17 7 81 52 9 0 157
HIBCH 20 21 57 43 16 0 144
DNAJC19 10 8 46 43 5 1 110
ACSF3, LOC125177393 7 9 15 46 5 0 76
CLPB, LOC130006336 2 1 47 23 3 0 76
MMAB, MVK 11 8 20 36 8 1 76
LOC129930446, MMACHC 23 12 14 18 0 0 57
CLPB, LOC126861258 7 2 24 22 1 4 54
LOC130064709, OPA3 2 5 17 20 3 1 44
AUH, LOC130002059 4 0 21 11 3 0 39
DNASE1L1, LOC130068869, TAFAZZIN 2 4 16 17 1 0 38
HCFC1, LOC130068842 0 0 4 14 12 0 30
TIMM50 8 2 5 2 4 0 21
DNASE1L1, TAFAZZIN 3 2 6 6 1 0 17
GGACT, PCCA 5 0 8 4 0 0 17
LOC126806368, MMADHC 0 1 2 8 2 0 13
LOC129938008, MCCC1 0 2 6 3 3 0 13
HLCS, LOC130066639 0 0 1 0 6 0 7
HTRA2 1 1 2 2 1 0 7
CUBN, LOC126860871 0 1 2 0 2 0 5
CUBN, LOC129390143 0 0 4 0 1 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
HTRA2, LOXL3 2 0 0 0 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 0 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
FA2H 0 1 0 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
G6PD 1 0 0 0 0 0 1
GALE, HMGCL, LOC129929682 0 0 0 1 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
LOC130010061, PCCA 0 0 0 1 0 0 1
LOC130060550, SLC46A1 0 1 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
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: 152
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1454 504 2926 6169 677 0 11730
Illumina Laboratory Services, Illumina 17 9 1287 146 332 0 1790
Baylor Genetics 367 714 89 0 0 0 1170
Natera, Inc. 127 43 524 122 106 0 922
Counsyl 96 270 229 17 0 0 612
Fulgent Genetics, Fulgent Genetics 108 89 294 113 8 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 145 103 1 0 0 0 249
OMIM 244 0 0 0 0 0 244
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 10 4 15 7 36 0 72
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 27 21 19 4 1 0 72
Mendelics 41 8 11 4 6 0 70
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
Neuberg Centre For Genomic Medicine, NCGM 10 15 21 0 0 0 46
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 38 0 0 0 2 0 40
Genomic Research Center, Shahid Beheshti University of Medical Sciences 12 6 17 1 0 0 36
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
3billion 20 5 5 0 0 0 30
Elsea Laboratory, Baylor College of Medicine 8 0 17 2 0 0 27
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 14 3 8 0 0 0 25
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 10 2 0 0 0 22
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
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
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 2 7 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
New York Genome Center 4 4 8 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
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
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 7 1 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
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
Arcensus 1 4 0 0 0 0 5
MVZ Medizinische Genetik Mainz 2 1 2 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
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 2 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 Program, 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
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 2 1 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 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
Undiagnosed Diseases Network, NIH 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 0 0 0 0 0 2
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 1 0 0 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
Daryl Scott Lab, Baylor College of Medicine 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
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
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 1 0 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
Department of Human Genetics, Hannover Medical School 0 1 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
Breakthrough Genomics, Breakthrough Genomics 0 0 1 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

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