ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (25):
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
274 78 2462 783 350 1 3781

Gene and significance breakdown #

Total genes and gene combinations: 30
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SH3TC2 59 20 654 193 125 0 1009
PRX 35 7 443 148 36 0 634
SBF2 16 9 328 99 27 0 462
FGD4 24 3 229 52 54 0 353
FIG4 35 6 201 71 19 0 317
NDRG1 10 7 191 95 21 0 300
MTMR2 26 7 147 40 32 0 239
GDAP1 40 6 91 27 4 0 165
LOC101928008, SBF2 5 3 120 37 7 0 164
SBF1 4 6 21 13 18 0 62
MPZ 4 2 10 8 4 0 28
SURF1 9 0 2 0 0 1 12
HK1 2 2 2 0 0 0 6
EGR2 3 0 2 0 0 0 5
LOC114004390, SH3TC2 1 0 2 0 0 0 3
MFN2 0 0 3 0 0 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
CCN4, DNAAF11, KCNQ3, NDRG1, PHF20L1, SLA, TG, TMEM71 0 0 1 0 0 0 1
DNM1L, FGD4 0 0 1 0 0 0 1
DYNC1H1 0 0 1 0 0 0 1
IGHMBP2 0 0 1 0 0 0 1
LRSAM1 0 0 1 0 0 0 1
MORC2 0 0 1 0 0 0 1
PLD3, PRX 0 0 1 0 1 0 1
PPP6R2 1 0 0 0 0 0 1
SEPTIN9 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 181 45 1605 633 146 0 2610
Illumina Clinical Services Laboratory,Illumina 1 0 879 139 265 0 1283
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 18 23 31 0 73
OMIM 53 0 0 0 0 0 53
Natera, Inc. 1 0 36 6 5 0 48
Baylor Genetics 13 2 26 0 0 0 41
GeneReviews 34 0 0 0 0 0 34
Genesis Genome Database 0 0 24 0 0 0 24
Athena Diagnostics Inc 4 0 0 0 16 0 20
Fulgent Genetics,Fulgent Genetics 6 2 9 0 0 0 17
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 12 0 0 0 16
CMT Laboratory,Bogazici University 11 1 1 0 0 0 13
Mendelics 3 2 1 0 3 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 3 4 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 1 2 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 2 0 0 0 0 4
Institute of Human Genetics,Cologne University 3 0 1 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 3 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
Kariminejad - Najmabadi Pathology & Genetics Center 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
Institute of Human Genetics, Klinikum rechts der Isar 2 1 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
Nilou-Genome Lab 0 0 0 0 3 0 3
Unit of Genetics and Genomics of Neuromuscular Diseases,Principe Felipe Research Center 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
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
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics, 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 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
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.