Variants studied for Charcot-Marie-Tooth Neuropathy X

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
144	40	254	239	38	715

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GJB1	136	36	195	103	15	485
PRPS1	7	4	58	136	23	228
ATG4A, CLDN2, COL4A5, COL4A6, DNAAF6, FRMPD3, GUCY2F, IRS4, KCNE5, MID2, MORC4, NUP62CL, NXT2, PRPS1, PSMD10, RBM41, RIPPLY1, TBC1D8B, TEX13B, TSC22D3, VSIG1	1	0	0	0	0	1
DNAAF6, FRMPD3, PRPS1, TSC22D3	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 1

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	144	40	254	239	38	715

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