Variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2O

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
7	5	58	4	3	74

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
POMGNT1, TSPAN1	5	5	42	3	3	56
POMGNT1	1	0	14	1	0	15
LOC129930471, POMGNT1	1	0	2	0	0	3

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	39	2	1	42
Genome-Nilou Lab	1	0	11	1	3	16
Counsyl	0	4	1	0	0	5
Centre for Mendelian Genomics, University Medical Centre Ljubljana	2	0	1	0	0	3
OMIM	2	0	0	0	0	2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	0	2	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	2
MGZ Medical Genetics Center	1	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	0	0	0	0	1
Medical Genetics Laboratory, Tarbiat Modares University	1	0	0	0	0	1
Pars Genome Lab	0	0	0	1	0	1
3billion	0	1	0	0	0	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	1	0	0	0	0	1

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