Variants studied for Charcot-Marie-Tooth disease type 2A1

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	not provided	total
2	0	21	2	4	1	30

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	not provided	total
KIF1B	2	19	2	4	0	27
DGAT2	0	1	0	0	0	1
KIF1B, LOC126805614	0	1	0	0	0	1
MFN2	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	uncertain significance	likely benign	benign	not provided	total
Revvity Omics, Revvity	0	13	0	0	0	13
Fulgent Genetics, Fulgent Genetics	0	2	2	0	0	4
Genome-Nilou Lab	0	0	0	4	0	4
OMIM	2	0	0	0	0	2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	0	0	0	1
Institute of Human Genetics, University of Wuerzburg	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	1	1
Center for Precision Medicine, Vanderbilt University Medical Center	0	1	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	1	0	0	0	1

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