ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (94):
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
1095 555 8597 7886 861 1 3 84 18564

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 26 25 1301 2132 166 0 0 9 3528
LMNA 256 104 502 370 22 0 0 5 1227
AARS1 51 15 637 515 44 0 0 3 1220
KIF1B 2 0 570 451 52 0 0 0 1069
IGHMBP2 116 30 364 504 47 0 0 4 1047
MFN2 127 86 463 294 57 1 0 4 997
DNM2 18 7 479 454 68 0 0 1 982
NAGLU 127 53 283 443 20 0 0 2 922
TRPV4 23 17 489 345 59 0 0 5 900
LRSAM1 41 43 386 274 28 0 0 5 741
MORC2 11 10 344 296 32 0 0 2 686
MED25 1 2 309 309 30 0 0 2 647
GARS1 16 10 335 238 35 0 0 11 616
MARS1 4 1 361 213 29 0 0 0 605
TRIM2 3 1 206 189 9 0 0 1 407
NEFL 30 5 251 103 12 0 0 3 398
BSCL2, HNRNPUL2-BSCL2 22 7 192 153 13 0 0 0 387
HSPB1 31 10 156 82 14 0 0 0 286
SPG11 20 5 156 32 10 0 0 12 227
HSPB8 4 1 124 51 15 0 0 2 193
LOC130060903, NAGLU 28 8 56 88 0 0 0 0 179
GDAP1 18 7 119 9 16 0 0 3 152
RAB7A 6 1 64 48 17 0 0 0 135
DYNC1H1, LOC126862060 1 0 46 80 4 0 0 0 126
LMNA, LOC126805877 16 14 43 31 2 0 0 0 102
KIF1B, LOC126805614 0 0 33 29 2 0 0 0 64
LMNA, LOC129931597 18 5 25 14 1 0 0 0 63
MME 13 16 17 2 0 0 3 2 51
DNM2, LOC130063529 0 0 29 21 0 0 0 0 50
MPV17 16 28 4 1 1 0 0 1 49
IGHMBP2, LOC126861245 4 2 14 24 5 0 0 0 48
LOC126860330, NEFL 3 1 20 10 1 0 0 0 35
LOC129929426, MFN2 0 0 27 7 1 0 0 0 34
DHTKD1 2 7 14 1 9 0 0 1 32
ATP1A1 6 5 14 0 13 0 0 0 31
ARHGAP9, MARS1 0 0 17 8 1 0 0 0 26
LOC112872299, RAB7A 0 0 13 13 0 0 0 0 26
MPZ 12 6 6 0 1 0 0 3 26
NEFH 2 4 15 0 5 0 0 0 26
KIF1B, LOC129388446 0 0 12 9 0 0 0 0 21
PNKP 2 5 5 4 2 0 0 0 18
KIF1B, LOC129388447 0 0 6 10 1 0 0 0 17
MED25, MIR6800 0 0 4 11 2 0 0 0 17
HARS1 5 4 6 0 1 0 0 1 15
DYNC1H1, LOC130056502 0 0 7 3 0 0 0 0 10
VCP 3 2 2 0 4 0 0 0 10
GDAP1, LOC130000622 1 0 6 0 1 0 0 0 8
MARS1, MIR6758 0 0 2 5 0 0 0 0 7
DNM2, LOC130063529, MIR638 0 0 2 4 0 0 0 0 6
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
MIR4497, TRPV4 0 0 3 1 0 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
MIR6841, NEFL 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
LOC130056971, SPG11 0 0 2 0 0 0 0 0 2
LOC130056973, 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
LOC129933372, MPV17 0 1 0 0 0 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, POLGARF 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: 119
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance risk factor not provided total
Invitae 935 367 7567 7695 668 1 0 0 17233
Illumina Laboratory Services, Illumina 0 0 532 194 287 0 0 0 1012
Fulgent Genetics, Fulgent Genetics 38 14 163 70 10 0 0 0 295
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 122 0 1 0 0 0 3 0 126
Baylor Genetics 26 32 41 0 0 0 0 0 99
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 42 42
Mendelics 10 10 8 5 8 0 0 0 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
Neuberg Centre For Genomic Medicine, NCGM 4 4 23 0 0 0 0 0 31
3billion 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
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 16 2 0 0 0 0 20
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 5 7 0 0 0 0 0 16
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
Athena Diagnostics 8 1 0 0 5 0 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 6 0 0 0 0 0 0 12
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, Cologne University 2 4 4 0 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 7 0 0 0 0 0 10
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
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 0 4 0 0 0 0 0 8
Institute of Human Genetics, University of Wuerzburg 0 1 7 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
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 3 3 2 0 0 0 0 0 8
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
Institute of Human Genetics, University of Goettingen 0 3 3 0 0 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 3 0 0 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 3 0 0 0 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 Human Genetics, University Hospital of Duesseldorf 2 2 0 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 3 0 1 0 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
MVZ Medizinische Genetik Mainz 0 1 3 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 1 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 of Immunology and Genetics Kaiserslautern 1 2 0 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
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
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
Clinical Genomics Laboratory, Washington University in St. Louis 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
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
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 0 0 1 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
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
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 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
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 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
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 Neurology, Shenzhen Hospital, Southern Medical University 0 1 0 0 0 0 0 0 1

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