Variants studied for Muscular dystrophy, limb-girdle, autosomal dominant 4

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
114	63	18	1	10	204

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CAPN3	108	60	17	1	9	193
CAPN3, LOC126862115	3	3	0	0	1	7
CAPN3, LOC130056921	3	0	1	0	0	4

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Baylor Genetics	114	60	2	0	0	176
Genome-Nilou Lab	0	0	7	1	10	18
Centre for Mendelian Genomics, University Medical Centre Ljubljana	2	1	3	0	0	6
MGZ Medical Genetics Center	0	0	2	0	0	2
OMIM	1	0	0	0	0	1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	0	1	0	0	1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	1	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	1	0	0	1
Pars Genome Lab	0	0	1	0	0	1
Lifecell International Pvt. Ltd	0	1	0	0	0	1
DASA	1	0	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	1	0	0	0	1

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