Variants from ClinGen Limb Girdle Muscular Dystrophy Variant Curation Expert Panel, ClinGen

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
259	78	30	32	36	435

Gene and significance breakdown #

Total genes and gene combinations: 15

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
DYSF	157	33	13	13	21	237
CAPN3	58	21	1	4	4	88
SGCA	14	14	1	1	2	32
ANO5	13	3	5	3	2	26
SGCG	7	3	4	3	2	19
SGCB	6	2	1	5	3	17
SGCD	2	0	3	1	0	6
CAPN3, LOC126862115	0	0	2	0	0	2
DYSF, LOC110121121	1	0	0	0	1	2
intergenic	0	1	0	0	0	1
CAPN3, LOC130056921	1	0	0	0	0	1
DYSF, LOC122787137	0	0	0	0	1	1
DYSF, LOC129934067	0	1	0	0	0	1
LOC121587601, SGCA	0	0	0	1	0	1
LOC129992585, SGCB	0	0	0	1	0	1

Condition and significance breakdown #

Total conditions: 3

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Autosomal recessive limb-girdle muscular dystrophy	256	77	29	32	36	430
Limb-girdle muscular dystrophy	2	1	1	0	0	4
Autosomal recessive limb-girdle muscular dystrophy type 2C	1	0	0	0	0	1

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