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
180 42 1436 266 95 1 1989

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SH3TC2 44 15 456 63 13 0 584
PRX 23 2 236 28 9 0 293
SBF2 10 2 161 27 10 0 206
FGD4 17 2 137 32 16 0 202
FIG4 19 2 91 24 6 0 139
MTMR2 17 4 88 20 13 0 137
NDRG1 5 2 78 18 5 0 107
GDAP1 22 5 50 2 1 0 78
LOC101928008, SBF2 3 2 60 7 1 0 72
MFN2 0 0 38 32 2 0 72
SBF1 4 2 12 5 8 0 31
MPZ 4 2 10 8 4 0 28
SURF1 5 0 1 0 2 1 9
HK1 2 2 1 0 0 0 5
EGR2 3 0 1 0 0 0 4
DYNC1H1 1 0 1 0 0 0 2
HSPB1 0 0 2 0 0 0 2
KIF1B 0 0 2 0 0 0 2
LOC114004390, SH3TC2 1 0 1 0 0 0 2
MFN2, PLOD1 0 0 0 0 2 0 2
MPZ, SDHC 0 0 0 0 2 0 2
TRPV4 0 0 2 0 0 0 2
CCN4, KCNQ3, LRRC6, NDRG1, PHF20L1, SLA, TG, TMEM71 0 0 1 0 0 0 1
DNM1L, FGD4 0 0 1 0 0 0 1
GDAP1, JPH1, LY96, TMEM70 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
SEPTIN9 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 84 21 777 72 0 0 954
Illumina Clinical Services Laboratory,Illumina 1 0 652 185 64 0 901
OMIM 53 0 0 0 0 0 53
GeneReviews 41 0 0 0 0 0 41
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 11 9 17 0 38
Genesis Genome Database 0 0 24 0 0 0 24
Athena Diagnostics Inc 5 0 0 0 16 0 21
Fulgent Genetics,Fulgent Genetics 6 2 9 0 0 0 17
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 12 0 0 0 16
Mendelics 3 2 1 0 3 0 9
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 6 0 6
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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 2 0 0 0 0 3
Institute of Human Genetics,Cologne University 3 0 0 0 0 0 3
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 1 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
Unit of Genetics and Genomics of Neuromuscular Diseases,Principe Felipe Research Center 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
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute of Human Genetics,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 Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Molecular Neurogenomics lab,VIB Department of Molecular Genetics; University of Antwerp 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1

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