ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (30):
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
467 161 3679 2536 458 50 7020

Gene and significance breakdown #

Total genes and gene combinations: 49
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SH3TC2 109 34 838 466 131 15 1515
PRX 51 11 629 346 39 8 1031
FIG4 71 21 380 318 41 3 790
SBF2 28 9 388 279 37 2 723
NDRG1 23 14 246 333 27 3 605
FGD4 35 9 336 187 58 8 604
MTMR2 32 10 227 175 36 1 465
LOC101928008, SBF2 10 5 199 145 12 1 359
GDAP1 60 20 149 74 4 3 292
LOC105369149, SBF2 6 5 96 80 7 1 187
SBF1 4 8 42 30 34 0 116
LOC126860531, NDRG1 1 3 24 50 4 0 79
GDAP1, LOC130000622 9 1 21 15 5 0 49
LOC130064454, PRX 1 0 20 17 1 0 39
MPZ 4 2 10 8 4 0 28
LOC126807546, SH3TC2 0 0 13 4 6 0 23
SURF1 11 3 5 1 0 1 21
HK1 2 5 4 1 7 1 19
LOC130005303, SBF2 1 0 13 6 0 0 19
LOC130001213, NDRG1 0 0 7 0 1 0 8
EGR2 1 0 2 0 1 3 6
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
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
AK9, FIG4, MICAL1, 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
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
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: 87
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 369 88 2724 2352 221 0 5754
Illumina Laboratory Services, Illumina 1 0 879 139 265 0 1283
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 40 50 41 0 131
Natera, Inc. 1 0 90 12 5 0 108
Fulgent Genetics, Fulgent Genetics 19 8 36 12 4 0 79
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
Genesis Genome Database 0 0 24 0 0 0 24
Athena Diagnostics Inc 4 0 0 0 16 0 20
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
3billion 8 4 3 0 0 0 15
Mendelics 8 2 1 0 3 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 6 0 0 0 0 13
CMT Laboratory, Bogazici University 11 1 1 0 0 0 13
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 2 5 0 0 0 13
Neuberg Centre For Genomic Medicine, NCGM 3 5 4 0 0 0 12
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
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
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
Molecular Genetics, Royal Melbourne Hospital 0 0 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 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
New York Genome Center 0 0 3 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 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
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
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

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