ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
558 289 3767 3036 458 55 7778

Gene and significance breakdown #

Total genes and gene combinations: 50
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SH3TC2 127 58 797 546 133 15 1589
PRX 59 20 646 413 39 9 1126
FIG4 85 29 384 402 42 3 899
SBF2 39 15 400 359 38 2 832
NDRG1 27 27 270 359 28 4 668
FGD4 46 12 341 212 55 8 643
MTMR2 37 28 229 216 35 1 526
LOC101928008, SBF2 14 8 211 189 13 2 421
GDAP1 65 30 178 88 4 3 339
LOC105369149, SBF2 6 6 98 104 7 2 213
SBF1 4 11 57 35 39 1 142
LOC126860531, NDRG1 1 5 28 55 4 0 87
GDAP1, LOC130000622 9 4 26 20 5 0 61
SURF1 19 25 5 1 0 1 51
LOC130064454, PRX 2 0 21 22 1 0 46
HK1 2 8 5 1 7 1 23
LOC130005303, SBF2 1 0 15 8 0 0 23
LOC126807546, SH3TC2 0 0 11 4 5 0 20
EGR2 1 0 6 0 1 3 10
LOC130001213, NDRG1 0 0 7 0 1 0 8
MPZ 4 2 1 0 0 0 7
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
LOC130064453, PRX 0 0 0 2 0 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
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: 109
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 443 98 2809 2863 229 0 6442
Illumina Laboratory Services, Illumina 1 0 799 122 253 0 1175
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 64 64 49 0 177
Fulgent Genetics, Fulgent Genetics 41 68 43 12 4 0 168
Natera, Inc. 1 10 122 12 5 0 150
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
Department of Pathology and Laboratory Medicine, Sinai Health System 2 6 30 1 0 0 39
GeneReviews 0 0 0 0 0 33 33
Kariminejad - Najmabadi Pathology & Genetics Center 8 11 11 0 0 0 30
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 16 13 0 0 0 0 29
3billion 15 7 6 0 0 0 28
Neuberg Centre For Genomic Medicine, NCGM 5 10 11 0 0 0 26
Genesis Genome Database 0 0 24 0 0 0 24
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 20 20
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 4 8 1 0 0 20
Revvity Omics, Revvity 3 3 12 0 0 0 18
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 12 0 0 0 16
Mendelics 9 2 1 0 3 0 15
CMT Laboratory, Bogazici University 11 1 1 0 0 0 13
Athena Diagnostics 3 0 0 0 8 0 11
First Genomix Gene Laboratory, Genetic Diagnostics Department 4 6 0 0 0 0 10
MGZ Medical Genetics Center 3 7 0 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 4 0 0 0 9
Next Generation Genetic Polyclinic 3 5 1 0 0 0 9
Variantyx, Inc. 5 4 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 5 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 3 2 2 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 1 6 0 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 6
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 4 1 0 0 0 5
Genomics England Pilot Project, Genomics England 2 3 0 0 0 0 5
Institute of Human Genetics, Cologne University 4 0 1 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 1 0 0 0 4
Cirak Lab, University Hospital Cologne 4 0 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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 3 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Institute of Human Genetics Munich, TUM University Hospital 3 1 0 0 0 0 4
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
Molecular Genetics, Royal Melbourne Hospital 0 0 4 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
UCLA Clinical Genomics Center, UCLA 3 1 0 0 0 0 4
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 3 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 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
Laboratory of Applied Genomics, Kongju National University 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
Breda Genetics srl, Breda Genetics srl 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 0 2
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 0 0 2 0 0 0 2
Dasa 2 0 0 0 0 0 2
Department of Medical Basic Sciences, Neurosciences and Sense Organs, University of Bari 0 2 0 0 0 0 2
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 2 0 0 0 2
IRCCS Fondazione Stella Maris, University of Pisa 2 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 2 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 1 1 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 0 2 0 0 0 0 2
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 1 0 0 0 2
Pangenia Genomics, Pangenia Inc. 0 1 1 0 0 0 2
Sadaf Naz Human Genetics Laboratory, University of the Punjab 2 0 0 0 0 0 2
Section for Clinical Neurogenetics, University of Tübingen 0 2 0 0 0 0 2
Service de genetique medicale, Pr. Levy, Hopital de La Timone Enfants, APHM 1 1 0 0 0 0 2
Unit of Genetics and Genomics of Neuromuscular Diseases, Principe Felipe Research Center 2 0 0 0 0 0 2
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
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 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
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 1
Institute of Bioinformatics 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
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Institute of Human Genetics, University of Ulm 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 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
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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