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
53 15 1099 355 151 1578

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SH3TC2 19 7 415 93 37 551
PRX 9 0 181 64 30 263
SBF2 5 2 126 43 14 179
FGD4 4 1 118 41 23 176
FIG4 7 1 73 42 12 125
MTMR2 4 3 68 28 20 112
NDRG1 2 0 64 32 10 102
LOC101928008, SBF2 2 0 52 12 5 66
LOC114004390, SH3TC2 1 0 1 0 0 2
DNM1L, FGD4 0 0 1 0 0 1
SBF1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 53 14 532 210 98 907
Illumina Clinical Services Laboratory,Illumina 0 0 606 145 54 804
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1

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