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

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
2	9	95	8	23	135

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
POMT2	2	9	89	7	20	125
LOC130056177, POMT2	0	0	6	1	3	10

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	91	8	19	118
Genome-Nilou Lab	0	0	0	0	4	4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	3	0	0	0	3
OMIM	2	0	0	0	0	2
Genetic Services Laboratory, University of Chicago	0	2	0	0	0	2
MGZ Medical Genetics Center	0	1	1	0	0	2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	0	2	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Center for Genetic Medicine Research, Children's National Medical Center	0	1	0	0	0	1
3billion	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	1

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