Variants studied for Autosomal recessive limb-girdle muscular dystrophy

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
190	97	29	24	20	354

Gene and significance breakdown #

Total genes and gene combinations: 21

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
DYSF	64	23	1	6	10	100
CAPN3	49	18	7	3	2	78
ANO5	18	4	5	3	1	31
SGCA	11	13	2	1	2	29
FKRP	13	7	0	0	0	20
SGCB	7	3	1	5	3	18
SGCG	4	6	1	3	1	15
POMT1	5	8	0	0	0	13
POMGNT1, TSPAN1	6	4	0	0	0	10
POMT2	2	5	0	0	0	7
PLEC	0	0	6	0	0	6
SGCD	2	0	3	1	0	6
ASTN2, TRIM32	3	2	0	0	0	5
CAPN3, LOC130056921	2	1	1	0	0	4
TRAPPC11	2	1	1	0	0	4
CAPN3, LOC126862115	1	0	1	0	0	2
LOC129992585, SGCB	0	1	0	1	0	2
DYSF, LOC110121121	1	0	0	0	0	1
DYSF, LOC122787137	0	0	0	0	1	1
LOC121587601, SGCA	0	0	0	1	0	1
POMT1, UCK1	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	127	74	0	0	0	201
ClinGen Limb Girdle Muscular Dystrophy Variant Curation Expert Panel, ClinGen	77	23	10	22	20	152
Department of Pathology and Laboratory Medicine, Sinai Health System	3	0	13	0	0	16
Molecular Genetics, Royal Melbourne Hospital	4	0	1	1	0	6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	4	0	0	5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	0	1	0	1
Clinical Genetics Laboratory, Skane University Hospital Lund	0	0	1	0	0	1

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