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

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
8	5	6	0	1	2	21

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
MPZ	8	5	5	1	2	20
MPZ, SDHC	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
OMIM	4	0	0	0	0	4
Fulgent Genetics, Fulgent Genetics	2	1	1	0	0	4
MGZ Medical Genetics Center	0	1	2	0	0	3
UCLA Clinical Genomics Center, UCLA	1	1	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	2	2
Baylor Genetics	0	1	0	0	0	1
Athena Diagnostics Inc	0	0	0	1	0	1
Centogene AG - the Rare Disease Company	0	0	1	0	0	1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	1	0	0	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	1	0	0	0	1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	0	0	1	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	1	0	0	1

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