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

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
7	2	51	16	25	10	100

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
GARS1	7	2	51	16	25	10	100

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	27	16	24	0	67
Inherited Neuropathy Consortium Ii, University Of Miami	0	0	18	0	0	0	18
GeneReviews	0	0	0	0	0	10	10
OMIM	5	0	0	0	0	0	5
Baylor Genetics	0	1	2	0	0	0	3
Genome-Nilou Lab	0	0	0	0	3	0	3
Institute of Human Genetics, University of Leipzig Medical Center	1	1	0	0	0	0	2
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	2	0	0	0	2
3billion	1	0	1	0	0	0	2
Institute of Human Genetics, Cologne University	0	0	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	0	1
Mendelics	0	0	0	0	1	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	0	1	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	1	0	0	0	1
Human Genetics Bochum, Ruhr University Bochum	0	0	1	0	0	0	1
Department of Clinical Genetics, Nationwide Children's Hospital	1	0	0	0	0	0	1

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