Variants studied for Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q

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
0	0	1	0	0	2	3

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	uncertain significance	not provided	total
PLEC	1	2	3

Submitter and significance breakdown #

Total submitters: 2

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Submitter	uncertain significance	not provided	total
GenomeConnect - Invitae Patient Insights Network	0	2	2
Clinical Genomics Laboratory, Washington University in St. Louis	1	0	1

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