Variants studied for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14; 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
29	7	121	119	7	282

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
GMPPB	28	7	115	111	6	266
GMPPB, LOC129936764	1	0	6	8	1	16

Submitter and significance breakdown #

Total submitters: 4

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	28	7	121	119	7	282
Fulgent Genetics, Fulgent Genetics	2	0	1	0	0	3
UCLA Clinical Genomics Center, UCLA	1	0	0	0	0	1
New York Genome Center	1	0	0	0	0	1

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