Variants studied for Charcot-Marie-Tooth disease, demyelinating, IIA 1I

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
6	7	9	0	0	21

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
POLR3B	5	6	8	18
LOC100287944, POLR3B	1	1	1	3

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	1	4	5	10
OMIM	4	0	0	4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	1
Duke University Health System Sequencing Clinic, Duke University Health System	1	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	1	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	1	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	1
Human Genetics Bochum, Ruhr University Bochum	1	0	0	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	0	1	0	1

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