Variants studied for Charcot-Marie-Tooth disease axonal type 2X

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
13	2	155	30	8	205

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SPG11	13	2	151	30	8	201
LOC130056971, SPG11	0	0	2	0	0	2
LOC130056973, SPG11	0	0	2	0	0	2

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Genome-Nilou Lab	3	1	151	30	8	193
OMIM	5	0	0	0	0	5
Neuberg Centre For Genomic Medicine, NCGM	1	1	1	0	0	3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	2	0	0	0	0	2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	1	0	1	0	0	2
Baylor Genetics	0	0	1	0	0	1
MGZ Medical Genetics Center	1	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	1	0	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	0	0	0	1
3billion	1	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	1

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