ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease, type I

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
66 17 219 81 20 402

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MPZ 40 12 62 11 4 129
PMP22 14 4 36 14 5 72
EGR2 4 1 44 16 0 65
LITAF 0 0 26 18 5 49
NEFL 0 0 16 21 4 41
PRX 0 0 7 0 0 7
SH3TC2 0 0 7 0 0 7
MIR4731, PMP22 6 0 0 0 0 6
DYNC1H1 0 0 4 0 0 4
AARS1 0 0 2 0 0 2
GDAP1 0 0 2 0 0 2
KIF1B 0 0 2 0 0 2
MORC2 0 0 2 0 0 2
MPZ, SDHC 0 0 0 0 2 2
SEPTIN9 0 0 2 0 0 2
CDRT15, CDRT4, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 1
CDRT4, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 1
FIG4 0 0 1 0 0 1
GARS1 0 0 1 0 0 1
IGHMBP2 0 0 1 0 0 1
LRSAM1 0 0 1 0 0 1
MFN2 0 0 1 0 0 1
MIR6841, NEFL 0 0 0 1 0 1
PLD3, PRX 0 0 1 0 0 1
TRPV4 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 66 17 110 8 0 201
Illumina Clinical Services Laboratory,Illumina 0 0 69 73 16 158
Genesis Genome Database 0 0 40 0 0 40
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 5 6
Neuromuscular Department,Hannover Medical School 0 0 1 0 0 1

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