Variants studied for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency

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
19	0	119	77	7	1	222

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	not provided	total
POMK	19	116	77	7	1	219
HGSNAT, POMK	0	2	0	0	0	2
FNTA, HOOK3, LOC129389983, LOC130000310, LOC130000311, LOC130000312, LOC130000313, LOC130000314, LOC130000315, MIR4469, POMK, RNF170, THAP1	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 2

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Submitter	pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	19	119	77	7	0	222
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	1	1

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