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
101	58	4	2	0	165

Gene and significance breakdown #

Total genes and gene combinations: 20

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	total
CAPN3	28	9	3	0	40
DYSF	25	12	0	2	39
FKRP	9	5	0	0	14
SGCA	8	6	0	0	14
ANO5	8	2	0	0	10
POMT1	4	6	0	0	10
POMGNT1, TSPAN1	5	3	0	0	8
POMT2	2	4	0	0	6
SGCG	2	3	0	0	5
ASTN2, TRIM32	2	2	0	0	4
SGCB	3	1	0	0	4
CAPN3, LOC130056921	1	1	0	0	2
TRAPPC11	1	1	0	0	2
ASXL1	1	0	0	0	1
CAPN3, LOC126862115	1	0	0	0	1
DYSF, LOC110121121	1	0	0	0	1
LOC129935364, MARS2	0	1	0	0	1
LOC129992585, SGCB	0	1	0	0	1
PLEC	0	0	1	0	1
POMT1, UCK1	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 4

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	99	58	0	0	157
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	4	0	5
Molecular Genetics, Royal Melbourne Hospital	3	0	0	1	4
Genetics and Molecular Pathology, SA Pathology	0	0	0	1	1

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