Variants studied for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; 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	not provided	total
72	47	311	481	31	3	937

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
POMT2	68	44	296	467	31	3	904
LOC130056175, POMT2	4	3	8	4	0	0	16
LOC130056177, POMT2	0	0	7	5	0	0	12
LOC130056176, POMT2	0	0	0	5	0	0	5

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	70	24	311	481	31	0	917
Fulgent Genetics, Fulgent Genetics	7	26	2	0	0	0	35
New York Genome Center	1	2	1	0	0	0	4
GenomeConnect, ClinGen	0	0	0	0	0	2	2
Juno Genomics, Hangzhou Juno Genomics, Inc	0	2	0	0	0	0	2
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1

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