ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 4

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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 total
68 18 1316 215 54 1665

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SH3TC2 22 8 455 63 12 557
PRX 13 0 235 28 5 279
SBF2 5 2 158 25 7 196
FGD4 6 0 134 30 14 184
FIG4 10 1 90 24 4 129
MTMR2 7 3 87 20 8 125
NDRG1 2 1 78 18 4 103
LOC101928008, SBF2 2 2 60 7 0 71
MFN2 0 0 3 0 0 3
HSPB1 0 0 2 0 0 2
KIF1B 0 0 2 0 0 2
LOC114004390, SH3TC2 1 0 1 0 0 2
TRPV4 0 0 2 0 0 2
CCN4, KCNQ3, LRRC6, NDRG1, PHF20L1, SLA, TG, TMEM71 0 0 1 0 0 1
DNM1L, FGD4 0 0 1 0 0 1
DYNC1H1 0 0 1 0 0 1
GDAP1 0 0 1 0 0 1
IGHMBP2 0 0 1 0 0 1
LRSAM1 0 0 1 0 0 1
MORC2 0 0 1 0 0 1
PLD3, PRX 0 0 1 0 0 1
SBF1 0 1 0 0 0 1
SEPTIN9 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 68 17 728 70 0 883
Illumina Clinical Services Laboratory,Illumina 0 0 606 145 54 804
Genesis Genome Database 0 0 24 0 0 24
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1

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