ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (28):
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
533 242 3742 2882 464 50 7555

Gene and significance breakdown #

Total genes and gene combinations: 51
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SH3TC2 123 52 838 521 131 15 1595
PRX 58 12 636 397 39 8 1097
FIG4 79 27 380 368 41 3 853
SBF2 34 11 390 333 38 2 788
FGD4 44 9 343 206 58 8 638
NDRG1 26 17 246 356 28 3 634
MTMR2 37 21 230 198 36 1 505
LOC101928008, SBF2 12 7 202 169 12 1 388
GDAP1 63 30 168 86 4 3 326
LOC105369149, SBF2 6 5 98 94 7 1 203
SBF1 4 10 49 35 38 0 132
LOC126860531, NDRG1 1 5 26 54 4 0 86
GDAP1, LOC130000622 9 3 26 20 5 0 61
SURF1 18 25 5 1 0 1 50
LOC130064454, PRX 1 0 21 22 1 0 45
MPZ 4 2 10 8 4 0 28
LOC126807546, SH3TC2 0 0 13 4 6 0 23
LOC130005303, SBF2 1 0 14 8 0 0 22
HK1 2 5 4 1 7 1 19
EGR2 1 0 5 0 1 3 9
LOC130001213, NDRG1 0 0 7 0 1 0 8
LOC130064456, PRX 0 0 4 0 0 0 4
LOC114004390, SH3TC2 1 0 2 0 0 0 3
MFN2 0 0 3 0 0 0 3
PLD3, PRX 2 0 1 0 1 0 3
AK9, FIG4, MICAL1, ZBTB24 1 0 1 0 0 0 2
GDAP1, JPH1, LY96, TMEM70 0 0 2 0 0 0 2
HSPB1 0 0 2 0 0 0 2
KIF1B 0 0 2 0 0 0 2
MPZ, SDHC 0 0 0 0 2 0 2
TRPV4 0 0 2 0 0 0 2
AFG1L, AK9, ARMC2, BEND3, CD164, CEP57L1, FIG4, FOXO3, MICAL1, MTRES1, NR2E1, OSTM1, PDSS2, PPIL6, QRSL1, RTN4IP1, SCML4, SEC63, SESN1, SMPD2, SNX3, SOBP, ZBTB24 1 0 0 0 0 0 1
AK9, CD164, FIG4, MICAL1, PPIL6, SMPD2, ZBTB24 0 0 1 0 0 0 1
CCN4, DNAAF11, KCNQ3, NDRG1, PHF20L1, SLA, TG, TMEM71 0 0 1 0 0 0 1
CCN4, NDRG1, SLA, TG 1 0 0 0 0 0 1
CNTNAP1 0 0 1 0 0 0 1
DNM1L, FGD4 0 0 1 0 0 0 1
DYNC1H1 0 0 1 0 0 0 1
GDAP1, JPH1, LOC126860420, LOC129390012, LOC130000614, LOC130000615, LOC130000616, LOC130000617, LOC130000618, LOC130000619, LOC130000620, LOC130000621, LOC130000622, LY96, TMEM70 0 0 1 0 0 0 1
IGHMBP2, LOC126861245 0 0 1 0 0 0 1
LOC101928008, LOC105369149, LOC126861136, LOC130005300, SBF2 0 1 0 0 0 0 1
LOC126861137, SBF2 0 0 1 0 0 0 1
LOC126863186, PPP6R2 1 0 0 0 0 0 1
LOC130001212, NDRG1 1 0 0 0 0 0 1
LOC130002899, SURF1 1 0 0 0 0 0 1
LOC130064453, LOC130064454, LOC130064455, PRX 0 0 1 0 0 0 1
LOC130064453, LOC130064454, PRX 1 0 0 0 0 0 1
LOC130064453, PRX 0 0 0 1 0 0 1
LRSAM1 0 0 1 0 0 0 1
MORC2 0 0 1 0 0 0 1
SEPTIN9 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 96
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 422 95 2767 2692 223 0 6199
Illumina Laboratory Services, Illumina 2 0 879 139 265 0 1284
Fulgent Genetics, Fulgent Genetics 41 68 43 12 4 0 168
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 53 61 46 0 160
Natera, Inc. 1 0 90 12 5 0 108
Inherited Neuropathy Consortium Ii, University Of Miami 1 0 62 0 0 0 63
Genome-Nilou Lab 0 0 0 1 59 0 60
OMIM 53 0 0 0 0 0 53
Baylor Genetics 9 2 33 0 0 0 44
GeneReviews 0 0 0 0 0 33 33
Neuberg Centre For Genomic Medicine, NCGM 5 10 11 0 0 0 26
Genesis Genome Database 0 0 24 0 0 0 24
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 8 0 0 0 0 20
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 4 7 1 0 0 19
Revvity Omics, Revvity 3 3 12 0 0 0 18
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 17 17
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 12 0 0 0 16
Athena Diagnostics 3 0 0 0 12 0 15
Mendelics 9 2 1 0 3 0 15
3billion, Medical Genetics 8 4 3 0 0 0 15
CMT Laboratory, Bogazici University 11 1 1 0 0 0 13
MGZ Medical Genetics Center 3 7 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 5 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 4 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 3 2 2 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 6
Institute of Human Genetics, Cologne University 4 0 1 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 0 5 0 0 0 0 5
Genomics England Pilot Project, Genomics England 2 3 0 0 0 0 5
Institute of Human Genetics, University of Goettingen 1 1 2 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 3 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 1 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 3 1 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 1 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 1 1 0 0 0 4
Cirak Lab, University Hospital Cologne 4 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 1 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 0 4 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 1 0 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Laboratory of Applied Genomics, Kongju National University 3 0 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 0 0 0 0 3
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 3 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 1 0 0 0 2
Unit of Genetics and Genomics of Neuromuscular Diseases, Principe Felipe Research Center 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
IRCCS Fondazione Stella Maris, University of Pisa 2 0 0 0 0 0 2
Service de genetique medicale, Pr. Levy, Hopital de La Timone Enfants, APHM 1 1 0 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 2
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 1 0 0 0 2
Section for Clinical Neurogenetics, University of Tübingen 0 2 0 0 0 0 2
Department of Medical Basic Sciences, Neurosciences and Sense Organs, University of Bari 0 2 0 0 0 0 2
DASA 2 0 0 0 0 0 2
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Pangenia Genomics, Pangenia Inc. 0 1 1 0 0 0 2
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Ulm 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Institute of Bioinformatics 1 0 0 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 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 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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