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

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
12	7	2	0	1	19

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
GMPPB	12	7	2	1	19

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	8	0	0	0	8
3billion	1	2	0	0	3
MGZ Medical Genetics Center	0	2	0	0	2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	2	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	2	0	0	2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	1	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	1	0	1	0	2
Baylor Genetics	0	0	1	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	0	1	0	0	1
James R Lupski Laboratory, Baylor College Of Medicine	1	0	0	0	1
Genome-Nilou Lab	0	0	0	1	1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences	1	0	0	0	1
Breakthrough Genomics, Breakthrough Genomics	1	0	0	0	1
Dr.Nikuei Genetic Center	1	0	0	0	1

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