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
151 28 1193 406 170 1 1843

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SH3TC2 38 11 415 93 37 0 571
PRX 16 1 185 64 32 0 274
FGD4 16 2 120 41 23 0 190
SBF2 9 2 129 43 15 0 187
FIG4 15 1 73 42 13 0 132
MTMR2 11 3 68 28 22 0 119
NDRG1 5 0 64 32 10 0 105
GDAP1 18 4 35 11 3 0 71
MFN2 0 0 35 32 2 0 69
LOC101928008, SBF2 3 0 52 12 5 0 67
MPZ 4 2 10 8 4 0 28
SBF1 4 1 2 0 0 0 7
SURF1 5 0 1 0 0 1 7
EGR2 3 0 1 0 0 0 4
HK1 2 1 1 0 0 0 4
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
DNM1L, FGD4 0 0 1 0 0 0 1
DYNC1H1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 65 18 567 221 100 0 971
Illumina Clinical Services Laboratory,Illumina 1 0 652 185 64 0 901
OMIM 50 0 0 0 0 0 50
GeneReviews 41 0 0 0 0 0 41
Athena Diagnostics Inc 7 0 0 0 16 0 23
Fulgent Genetics 6 2 9 0 0 0 17
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 0 10 0 0 0 13
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
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
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 0 2
Institute of Human Genetics,Cologne University 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 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
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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