ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 4

Coded as:
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Gene type:

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
377 86 2661 2756 222 1 6088

Gene and significance breakdown #

Total genes and gene combinations: 36
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SH3TC2 99 16 446 481 49 0 1089
PRX 53 7 583 405 38 0 1084
FIG4 79 21 330 397 34 1 861
SBF2 36 7 350 355 25 0 773
NDRG1 19 9 192 346 12 0 570
FGD4 38 4 220 195 18 0 475
MTMR2 26 7 185 206 22 0 446
LOC101928008, SBF2 13 4 196 183 12 0 408
LOC105369149, SBF2 4 6 86 102 7 0 205
LOC126860531, NDRG1 1 3 23 54 3 0 83
LOC130064454, PRX 1 0 21 22 1 0 45
LOC130005303, SBF2 1 0 7 8 0 0 16
MFN2 0 0 3 0 0 0 3
PLD3, PRX 2 0 1 0 1 0 3
AK9, FIG4, MICAL1, ZBTB24 1 0 1 0 0 0 2
HSPB1 0 0 2 0 0 0 2
KIF1B 0 0 2 0 0 0 2
LOC130064453, PRX 0 0 0 2 0 0 2
TRPV4 0 0 2 0 0 0 2
AFG1L, AK9, ARMC2, BEND3, CD164, CEP57L1, FIG4, FOXO3, MICAL1, MTRES1, NR2E1, OSTM1, PDSS2, PPIL6, QRSL1, RTN4IP1, SCML4, SEC63, SESN1, SMPD2, SNX3, SOBP, ZBTB24 1 0 0 0 0 0 1
AK9, CD164, FIG4, MICAL1, PPIL6, SMPD2, ZBTB24 0 0 1 0 0 0 1
CCN4, DNAAF11, KCNQ3, NDRG1, PHF20L1, SLA, TG, TMEM71 0 0 1 0 0 0 1
CCN4, NDRG1, SLA, TG 1 0 0 0 0 0 1
DNM1L, FGD4 0 0 1 0 0 0 1
DYNC1H1 0 0 1 0 0 0 1
GDAP1, LOC130000622 0 0 1 0 0 0 1
IGHMBP2, LOC126861245 0 0 1 0 0 0 1
LOC101928008, LOC105369149, LOC126861136, LOC130005300, SBF2 0 1 0 0 0 0 1
LOC114004390, SH3TC2 1 0 0 0 0 0 1
LOC126861137, SBF2 0 0 1 0 0 0 1
LOC130064453, LOC130064454, LOC130064455, PRX 0 0 1 0 0 0 1
LOC130064453, LOC130064454, PRX 1 0 0 0 0 0 1
LRSAM1 0 0 1 0 0 0 1
MORC2 0 0 1 0 0 0 1
SBF1 0 1 0 0 0 0 1
SEPTIN9 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 377 84 2627 2755 222 0 6065
Natera, Inc. 0 0 25 6 5 0 36
Genesis Genome Database 0 0 24 0 0 0 24
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1

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