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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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
205	57	560	303	38	1162

Gene and significance breakdown #

Total genes and gene combinations: 31

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
MPZ	113	40	207	98	4	462
EGR2	9	2	199	117	10	337
PMP22	74	15	104	75	16	283
NEFL	0	0	5	10	4	19
LITAF	0	0	7	2	1	10
SH3TC2	0	0	7	0	0	7
PRX	0	0	6	0	0	6
MIR4731, PMP22	5	0	0	0	0	5
DYNC1H1	0	0	4	0	0	4
MPZ, SDHC	0	0	1	0	2	3
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
SEPTIN9	0	0	2	0	0	2
ATF6, CFAP126, DUSP12, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRLA, FCRLB, HSPA6, MPZ, SDHC	0	0	1	0	0	1
CDRT15, CDRT4, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4	1	0	0	0	0	1
CDRT15, HS3ST3B1, PMP22	1	0	0	0	0	1
CDRT4, PMP22, TEKT3, TVP23C, TVP23C-CDRT4	1	0	0	0	0	1
EGR2, JMJD1C, NRBF2	0	0	1	0	0	1
FIG4	0	0	1	0	0	1
GARS1	0	0	1	0	0	1
IGHMBP2	0	0	1	0	0	1
LOC130060307, MIR4731, PMP22	1	0	0	0	0	1
LOC130060307, PMP22	0	0	0	0	1	1
LOC130064454, PRX	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
Labcorp Genetics (formerly Invitae), Labcorp	205	57	489	279	18	1048
Illumina Laboratory Services, Illumina	1	0	34	24	18	77
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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