ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (96):
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
1231 733 9460 8879 870 1 3 83 20648

Gene and significance breakdown #

Total genes and gene combinations: 110
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance risk factor not provided total
DYNC1H1 33 32 1483 2411 168 0 0 9 4000
LMNA 283 122 577 419 22 0 0 5 1374
AARS1 57 16 720 568 45 0 0 3 1364
KIF1B 2 0 669 539 54 0 0 0 1256
IGHMBP2 125 39 366 537 48 0 0 3 1098
MFN2 135 94 501 323 57 1 0 4 1070
DNM2 18 8 502 513 68 0 0 1 1063
TRPV4 25 19 539 378 59 0 0 5 987
NAGLU 143 81 287 464 20 0 0 2 974
LRSAM1 47 47 414 301 28 0 0 5 803
MORC2 13 13 397 352 33 0 0 2 798
MARS1 4 1 409 265 29 0 0 0 705
MED25 1 2 303 353 30 0 0 2 685
GARS1 18 11 370 260 35 0 0 11 673
BSCL2, HNRNPUL2-BSCL2 25 8 222 184 13 0 0 0 452
NEFL 38 4 270 129 13 0 0 3 449
TRIM2 3 1 225 210 9 0 0 1 447
HSPB1 32 11 176 90 14 0 0 0 315
SPG11 41 68 161 32 10 0 0 12 308
HSPB8 5 1 133 60 15 0 0 2 212
LOC130060903, NAGLU 32 12 56 93 0 0 0 0 189
GDAP1 20 16 119 9 16 0 0 3 157
DYNC1H1, LOC126862060 2 0 53 95 4 0 0 0 149
RAB7A 6 1 67 53 18 0 0 0 144
LMNA, LOC126805877 19 14 48 38 2 0 0 0 116
LMNA, LOC129931597 18 8 30 17 1 0 0 0 73
KIF1B, LOC126805614 0 0 37 30 2 0 0 0 69
MME 15 20 20 2 0 0 3 2 59
MPV17 17 34 4 1 1 0 0 1 54
DNM2, LOC130063529 0 0 30 22 0 0 0 0 52
IGHMBP2, LOC126861245 4 2 15 25 5 0 0 0 50
LOC126860330, NEFL 3 1 22 13 1 0 0 0 40
LOC129929426, MFN2 0 0 28 8 1 0 0 0 36
ATP1A1 6 6 17 0 13 0 0 0 35
DHTKD1 2 7 14 1 9 0 0 1 32
ARHGAP9, MARS1 0 0 19 11 1 0 0 0 31
MPZ 15 6 7 0 0 0 0 3 29
LOC112872299, RAB7A 0 0 14 14 0 0 0 0 28
NEFH 2 4 16 0 5 0 0 0 27
KIF1B, LOC129388446 0 0 16 9 0 0 0 0 25
PNKP 2 5 7 4 2 0 0 0 20
KIF1B, LOC129388447 0 0 7 11 1 0 0 0 19
MED25, MIR6800 0 0 3 13 2 0 0 0 18
HARS1 5 4 6 0 1 0 0 1 15
DYNC1H1, LOC130056502 0 0 9 4 1 0 0 0 14
GDAP1, LOC130000622 2 2 6 0 1 0 0 0 11
VCP 3 2 2 0 4 0 0 0 10
DNM2, LOC130063529, MIR638 0 0 2 5 0 0 0 0 7
MARS1, MIR6758 0 0 2 5 0 0 0 0 7
DYNC1H1, LOC125078040 0 0 4 0 2 0 0 0 6
DCAF8 1 0 3 1 0 0 0 0 5
DNM2, MIR6793 0 0 0 3 2 0 0 0 5
LOC129929423, MFN2 0 0 5 0 0 0 0 0 5
BSCL2 2 0 2 0 0 0 0 0 4
LOC130056973, SPG11 0 2 2 0 0 0 0 0 4
MIR4497, TRPV4 0 0 3 1 0 0 0 0 4
MIR6841, NEFL 0 0 1 2 1 0 0 0 4
LOC130002648, LRSAM1 0 0 2 0 1 0 0 0 3
MFN2, PLOD1 0 0 2 0 1 0 0 0 3
DNAJB2 1 0 0 0 0 0 0 1 2
DNM2, MIR199A1 0 0 2 0 0 0 0 0 2
LMNA, LOC120893162, LOC126805877, LOC129931597, LOC129931598, LOC129931599, LOC129931600 1 0 1 0 0 0 0 0 2
LOC129933372, MPV17 0 2 0 0 0 0 0 0 2
LOC130056971, SPG11 0 0 2 0 0 0 0 0 2
AARS1, COG4, DDX19A, DDX19A-DT, DDX19B, FCSK, IL34, LOC112486204, LOC125177345, LOC126862386, LOC130059328, LOC130059329, LOC130059330, LOC130059331, LOC130059332, LOC130059333, LOC130059334, LOC130059335, LOC130059336, LOC130059337, LOC130059338, LOC130059339, LOC130059340, LOC130059341, LOC130059342, SF3B3, SNORD111, SNORD111B, ST3GAL2 0 0 1 0 0 0 0 0 1
AARS1, COG4, DDX19A, DDX19B, FCSK, IL34, MTSS2, SF3B3, ST3GAL2, VAC14 0 0 1 0 0 0 0 0 1
ACAD9, ACAD9-DT, CFAP92, LOC112872299, LOC126806807, LOC129389132, LOC129937528, LOC129937529, MIR12124, RAB7A 0 0 1 0 0 0 0 0 1
ACP5, ANGPTL8, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KANK2, KLF1, LDLR, LYL1, MAN2B1, MAST1, MIR199A1, NACC1, NFIX, ODAD3, PRDX2, PRKCSH, RAB3D, RAD23A, RGL3, RNASEH2A, RTBDN, SMARCA4, SPC24, STX10, SWSAP1, SYCE2, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878 0 0 1 0 0 0 0 0 1
ADAM15, ADAR, AQP10, ARHGEF2, ASH1L, ATP8B2, BCAN, BGLAP, C1orf43, CCT3, CFAP141, CHRNB2, CKS1B, CLK2, CRABP2, DAP3, DCST1, DCST2, DPM3, EFNA1, EFNA3, EFNA4, ENTREP3, FDPS, FLAD1, GBA1, GLMP, GON4L, GPATCH4, HAPLN2, HAX1, HCN3, HDGF, IL6R, INSRR, IQGAP3, ISG20L2, KCNN3, KHDC4, KRTCAP2, LAMTOR2, LENEP, LMNA, MEF2D, METTL25B, MEX3A, MIR9-1, MIR9-1HG, MRPL24, MSTO1, MTX1, MUC1, NAXE, NES, NTRK1, PAQR6, PBXIP1, PKLR, PMF1, PMF1-BGLAP, PMVK, PRCC, PYGO2, RAB25, RHBG, RIT1, RUSC1, RXFP4, SCAMP3, SEMA4A, SH2D2A, SHC1, SHE, SLC25A44, SLC50A1, SMG5, SSR2, SYT11, TDRD10, THBS3, TMEM79, TPM3, TRIM46, TSACC, TTC24, UBAP2L, UBE2Q1, UBQLN4, VHLL, YY1AP1, ZBTB7B 0 0 1 0 0 0 0 0 1
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, PPP2R5C, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839 0 0 1 0 0 0 0 0 1
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839 0 0 1 0 0 0 0 0 1
AGAP2, APOF, ARHGAP9, ARHGEF25, ATP5F1B, B4GALNT1, BAZ2A, CDK4, CYP27B1, DCTN2, DDIT3, DTX3, EEF1AKMT3, GLI1, GLS2, GPR182, HSD17B6, IL23A, INHBC, INHBE, KIF5A, LRP1, MARCHF9, MARS1, MBD6, METTL1, MIP, MIR616, MYO1A, NAB2, NACA, NDUFA4L2, NEMP1, NXPH4, OS9, PAN2, PIP4K2C, PRIM1, PTGES3, R3HDM2, RBMS2, RDH16, SDR9C7, SHMT2, SPRYD4, STAC3, STAT2, STAT6, TAC3, TIMELESS, TSFM, TSPAN31, ZBTB39 0 0 1 0 0 0 0 0 1
AGTRAP, ANGPTL7, C1orf127, C1orf167, CASZ1, CENPS, CENPS-CORT, CLCN6, CLSTN1, CORT, CTNNBIP1, DFFA, DISP3, DRAXIN, EXOSC10, FBXO2, FBXO44, FBXO6, H6PD, KIAA2013, KIF1B, LZIC, MAD2L2, MASP2, MFN2, MIIP, MTHFR, MTOR, NMNAT1, NPPA, NPPB, PEX14, PGD, PIK3CD, PLOD1, RBP7, SLC25A33, SPSB1, SRM, TARDBP, TMEM201, TNFRSF1B, TNFRSF8, UBE4B, UBIAD1, VPS13D 0 0 1 0 0 0 0 0 1
AMN, ANKRD9, CINP, DYNC1H1, HSP90AA1, MOK, RCOR1, TECPR2, TRAF3, WDR20, ZNF839 0 0 1 0 0 0 0 0 1
AQP1, CRHR2, FKBP14, GARS1, GGCT, INMT, MINDY4, MTURN, NOD1, PLEKHA8, ZNRF2 0 0 1 0 0 0 0 0 1
AQP1, CRHR2, GARS1, GHRHR, INMT, MINDY4 0 0 1 0 0 0 0 0 1
ARHGEF2, BCAN, BGLAP, CCT3, CRABP2, DAP3, GLMP, GON4L, GPATCH4, HAPLN2, HDGF, INSRR, IQGAP3, ISG20L2, KHDC4, LAMTOR2, LMNA, MEF2D, METTL25B, MEX3A, MIR9-1, MIR9-1HG, MRPL24, MSTO1, NAXE, NES, NTRK1, PAQR6, PMF1, PMF1-BGLAP, PRCC, RAB25, RHBG, RIT1, RXFP4, SEMA4A, SH2D2A, SLC25A44, SMG5, SSR2, SYT11, TMEM79, TSACC, TTC24, UBQLN4, VHLL, YY1AP1 1 0 0 0 0 0 0 0 1
ARHGEF2, KHDC4, LAMTOR2, LMNA, LOC110121262, LOC120893162, LOC121725059, LOC122128442, LOC122128443, LOC122128444, LOC126805876, LOC126805877, LOC129931577, LOC129931578, LOC129931579, LOC129931580, LOC129931581, LOC129931582, LOC129931583, LOC129931584, LOC129931585, LOC129931586, LOC129931587, LOC129931588, LOC129931589, LOC129931590, LOC129931591, LOC129931592, LOC129931593, LOC129931594, LOC129931595, LOC129931596, LOC129931597, LOC129931598, LOC129931599, LOC129931600, MEX3A, MIR6738, RAB25, RIT1, RXFP4, SCARNA4, SNORA80E, SSR2, UBQLN4 0 0 1 0 0 0 0 0 1
ATL3 0 0 1 0 0 0 0 0 1
ATP7A 0 0 1 0 0 0 0 0 1
BGLAP, LMNA, LOC110013312, LOC120893162, LOC126805877, LOC129931597, LOC129931598, LOC129931599, LOC129931600, LOC129931601, LOC129931602, LOC129931603, LOC129931604, LOC129931605, LOC129931606, LOC129931607, LOC129931608, LOC129931609, LOC129931610, LOC129931611, LOC129931612, PMF1, PMF1-BGLAP, SEMA4A, SLC25A44 1 0 0 0 0 0 0 0 1
BSCL2, LBHD1, LRRN4CL, UBXN1, UQCC3 0 0 1 0 0 0 0 0 1
CDCA2, DOCK5, EBF2, GNRH1, KCTD9, NEFL 1 0 0 0 0 0 0 0 1
CENPS, CENPS-CORT, CORT, DFFA, KIF1B, PEX14, PGD 0 0 1 0 0 0 0 0 1
COASY, HSD17B1, MLX, NAGLU, PSMC3IP 0 0 1 0 0 0 0 0 1
COL12A1 0 0 1 0 0 0 0 0 1
DCTN1 0 0 1 0 0 0 0 0 1
DCTN2, DDIT3, KIF5A, MARS1, MBD6, MIR616 0 0 1 0 0 0 0 0 1
DGAT2 0 0 1 0 0 0 0 0 1
DNM2, LOC130063529, LOC130063530, LOC130063531, LOC130063532, LOC130063533, LOC130063534, LOC130063535, LOC130063536, MIR4748, MIR638 0 0 1 0 0 0 0 0 1
DYNC1H1, LOC130056499, LOC130056500, PPP2R5C 0 0 1 0 0 0 0 0 1
DYNC1H1, PPP2R5C 0 0 1 0 0 0 0 0 1
ELOC, GDAP1, JPH1, LINC01617, LOC126860420, LOC129390012, LOC130000611, LOC130000612, LOC130000613, LOC130000614, LOC130000615, LOC130000616, LOC130000617, LOC130000618, LOC130000619, LOC130000620, LOC130000621, LOC130000622, LY96, TMEM70, UBE2W 0 0 1 0 0 0 0 0 1
EMD 0 1 0 0 0 0 0 0 1
HARS1, LOC129994848 0 1 0 0 0 0 0 0 1
HSPB3 0 1 0 0 0 0 0 0 1
JPH1 0 0 0 0 1 0 0 0 1
KIAA2013, MFN2, NPPA, NPPB, PLOD1 0 0 1 0 0 0 0 0 1
KIF1A 0 1 0 0 0 0 0 0 1
KIF1B, LOC129929363 0 0 0 1 0 0 0 0 1
KIF5A 0 1 0 0 0 0 0 0 1
LMNA, LOC120893162, LOC129931597, LOC129931598, LOC129931599 1 0 0 0 0 0 0 0 1
LOC129929423, MFN2, PLOD1 0 0 0 0 1 0 0 0 1
LOC129993256, LOC129993257, TRIM2 0 0 1 0 0 0 0 0 1
MPV17, TRIM54, UCN 1 1 0 0 0 0 0 0 1
MPZ, SDHC 0 0 1 0 0 0 0 0 1
PMP22 0 0 0 0 0 0 0 1 1
POLG 0 0 1 0 0 0 0 0 1
SETX 0 0 1 0 0 0 0 0 1
SLC5A7 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 133
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1035 395 8343 8688 678 1 0 0 19140
Illumina Laboratory Services, Illumina 0 0 532 194 287 0 0 0 1012
Fulgent Genetics, Fulgent Genetics 101 147 295 72 10 0 0 0 625
Genome-Nilou Lab 4 1 152 30 101 0 0 0 288
Inherited Neuropathy Consortium Ii, University Of Miami 2 0 150 0 0 0 0 0 151
OMIM 123 0 1 0 0 0 3 0 127
Baylor Genetics 26 32 41 0 0 0 0 0 99
Neuberg Centre For Genomic Medicine, NCGM 7 6 32 0 0 0 0 0 45
Mendelics 10 10 8 5 8 0 0 0 41
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 41 41
MGZ Medical Genetics Center 7 13 14 1 0 0 0 0 35
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 14 10 9 0 0 0 0 0 33
Revvity Omics, Revvity 0 3 28 0 0 0 0 0 31
3billion, Medical Genetics 16 4 9 0 0 0 0 0 29
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 7 11 6 0 0 0 25
Institute of Human Genetics, University of Leipzig Medical Center 6 6 11 0 0 0 0 0 23
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 2 13 0 0 0 0 0 22
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 15 0 1 0 0 0 21
GenomeConnect, ClinGen 0 0 0 0 0 0 0 20 20
Juno Genomics, Hangzhou Juno Genomics, Inc 9 4 7 0 0 0 0 0 20
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 16 2 0 0 0 0 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 10 0 0 0 0 0 0 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 5 8 0 0 0 0 0 17
Solve-RD Consortium 0 17 0 0 0 0 0 0 17
GeneReviews 0 0 0 0 0 0 0 15 15
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 2 1 12 0 0 0 0 0 15
Institute of Human Genetics, Cologne University 2 4 5 0 0 0 0 0 11
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 5 6 0 0 0 0 0 0 11
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 5 6 0 0 0 0 0 11
Institute of Human Genetics, University of Wuerzburg 0 1 9 0 0 0 0 0 10
Athena Diagnostics 7 1 0 0 1 0 0 0 9
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 0 5 0 0 0 0 0 9
Genomics England Pilot Project, Genomics England 4 5 0 0 0 0 0 0 9
Molecular Genetics, Royal Melbourne Hospital 2 0 7 0 0 0 0 0 9
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 4 3 2 0 0 0 0 0 9
Centogene AG - the Rare Disease Company 1 1 6 0 0 0 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 4 0 0 0 0 0 8
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 7 0 0 0 0 0 8
Institute of Human Genetics, University of Goettingen 1 3 3 0 0 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 4 0 0 0 0 0 7
New York Genome Center 0 1 6 0 0 0 0 0 7
MVZ Medizinische Genetik Mainz 0 3 4 0 0 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 3 0 0 0 0 0 0 6
Institute of Human Genetics, University Hospital of Duesseldorf 2 2 2 0 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 3 0 0 0 0 0 0 6
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 2 1 3 0 0 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 1 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 1 4 0 0 0 0 0 5
UCLA Clinical Genomics Center, UCLA 2 3 0 0 0 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 2 0 1 0 0 0 5
CMT Laboratory, Bogazici University 5 0 0 0 0 0 0 0 5
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 5 5
Institute of Immunology and Genetics Kaiserslautern 1 3 1 0 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 1 0 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 3 0 1 0 0 0 0 0 4
Laboratory of Functional Genomics, Research Centre for Medical Genetics 2 0 1 1 0 0 0 0 4
Suma Genomics 1 1 1 1 0 0 0 0 4
DASA 1 3 0 0 0 0 0 0 4
Human Genetics Bochum, Ruhr University Bochum 0 1 3 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 2 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 0 0 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 3 3
Department of Medical Genetics, Oslo University Hospital 0 3 0 0 0 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 1 0 0 0 0 0 3
Undiagnosed Diseases Network, NIH 1 1 1 0 0 0 0 0 3
Biochimie - Maladies Neurologiques Hereditaires, Hospices Civils de Lyon 3 0 0 0 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 3 0 0 0 0 0 3
Antonellis Laboratory at Michigan, University of Michigan 0 0 3 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 2 0 0 0 0 0 3
Molecular Genetics Lab, CHRU Brest 1 2 0 0 0 0 0 0 3
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 2 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 0 0 0 0 0 2
Northcott Neuroscience Laboratory, ANZAC Research Institute 2 0 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 0 0 2
Neurology Department, Peking University First Hospital 2 0 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 1 1 0 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 1 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 0 0 2
Paris Brain Institute, Inserm - ICM 2 0 0 0 0 0 0 0 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 2 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 1 0 0 0 0 0 0 2
Department of Neurology, Shenzhen Hospital, Southern Medical University 0 2 0 0 0 0 0 0 2
Molecular Genetics Laboratory, London Health Sciences Centre 0 0 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Ulm 0 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 0 1
Care4Rare-SOLVE, CHEO 0 0 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 0 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 1
Division of Genetic Medicine, Lausanne University Hospital 0 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 0 0 1
Service de genetique medicale, Pr. Levy, Hopital de La Timone Enfants, APHM 0 1 0 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 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 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 1 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 0 0 0 0 0 1
Neurology Laboratory, National Cheng Kung University Hospital 0 1 0 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 0 1
Human Genetics Research Center, Baqiyatallah University of Medical Sciences 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 1 0 0 0 0 0 1
Department of Clinical Genetics, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 1 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 1
Department of Human Genetics, University Hospital Bern, Inselspital 0 1 0 0 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 0 0 0 1
Critical Care Medical Center, Fujian Provincial Hospital 1 0 0 0 0 0 0 0 1

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