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

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
21	9	9	0	9	46

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
IGHMBP2	19	8	8	8	42
IGHMBP2, LOC126861245	2	1	1	1	4

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
Genome-Nilou Lab	0	0	0	9	9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	4	4	0	0	8
OMIM	6	0	0	0	6
Baylor Genetics	1	0	4	0	5
Department of Medical Genetics, Oslo University Hospital	0	3	0	0	3
3billion, Medical Genetics	2	1	0	0	3
Institute of Human Genetics, Cologne University	1	1	0	0	2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	1	0	1	0	2
Undiagnosed Diseases Network, NIH	1	0	1	0	2
Biochemistry Laboratory of CDMU, Chengde Medical University	1	1	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	2
MGZ Medical Genetics Center	0	1	0	0	1
Centogene AG - the Rare Disease Company	1	0	0	0	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	1	0	0	0	1
Gene Discovery Core-Manton Center, Boston Children's Hospital	1	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	0	1
Genetics Laboratory, Department of Biology, Semnan University	1	0	0	0	1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo	1	0	0	0	1
Palindrome, Gene Kavoshgaran Aria	1	0	0	0	1

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