Variants studied for Emery-Dreifuss muscular dystrophy 1, X-linked

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)

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
10	11	24	1	3	48

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	total
EMD	10	11	24	1	3	48

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Revvity Omics, Revvity	3	3	22	0	0	28
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	1	3	4
Baylor Genetics	1	2	0	0	0	3
Illumina Laboratory Services, Illumina	0	2	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	1	1	0	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	0	0	2
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	0	1
Human Genetics Bochum, Ruhr University Bochum	1	0	0	0	0	1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	1	0	0	0	0	1
Institute of Immunology and Genetics Kaiserslautern	1	0	0	0	0	1
Kariminejad - Najmabadi Pathology & Genetics Center	0	1	0	0	0	1
Unidad de Genética, Hospital Universitario de Canarias	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	1

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