Variants studied for Charcot-Marie-Tooth disease dominant intermediate D

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
4	7	24	2	12	48

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
MPZ	4	7	23	2	12	47
MPZ, SDHC	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	16	2	12	30
Institute of Human Genetics, University of Leipzig Medical Center	1	1	1	0	0	3
Institute of Human Genetics, Cologne University	1	0	1	0	0	2
OMIM	1	0	0	0	0	1
Baylor Genetics	0	0	1	0	0	1
MGZ Medical Genetics Center	0	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	0	1
Institute of Human Genetics, University of Wuerzburg	0	1	0	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	0	1	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	1	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	0	1	0	0	1
Laboratory of Functional Genomics, Research Centre for Medical Genetics	0	1	0	0	0	1
Genotek, Genotek Ltd.	0	1	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	0	1	0	0	1
3billion, Medical Genetics	0	1	0	0	0	1
Genomics England Pilot Project, Genomics England	0	1	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	1	0	0	1

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