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
186	58	512	275	38	1068

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	101	39	188	85	4	417
EGR2	9	2	183	105	10	309
PMP22	67	17	91	72	16	262
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
Invitae	186	58	441	251	18	954
Illumina Laboratory Services, Illumina	0	0	34	24	18	76
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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