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
115 32 1283 348 148 1918

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
PRX 23 2 291 74 35 423
SH3TC2 32 10 263 74 36 412
SBF2 9 3 204 58 11 284
FIG4 21 4 135 42 12 214
NDRG1 3 4 97 44 11 159
FGD4 11 1 103 23 18 156
MTMR2 12 4 90 18 17 140
LOC101928008, SBF2 3 3 82 15 7 110
MFN2 0 0 3 0 0 3
HSPB1 0 0 2 0 0 2
KIF1B 0 0 2 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
LOC114004390, SH3TC2 1 0 0 0 0 1
LRSAM1 0 0 1 0 0 1
MORC2 0 0 1 0 0 1
PLD3, PRX 0 0 1 0 1 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 115 31 1192 339 142 1819
Illumina Clinical Services Laboratory,Illumina 0 0 70 9 6 84
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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