Variants studied for Junctional epidermolysis bullosa

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
45	25	210	36	67	1	382

Gene and significance breakdown #

Total genes and gene combinations: 10

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
LAMB3	16	10	102	16	32	0	175
LAMC2	11	4	88	18	29	0	149
COL17A1	9	3	3	1	1	1	18
LAMA3	7	6	2	0	0	0	15
LAMC2, LOC126805948	0	0	10	0	5	0	15
LAMB3, LOC126805999	0	0	4	1	0	0	5
LAMA3, LOC126862707	0	1	1	0	0	0	2
COL17A1, MIR936	1	0	0	0	0	0	1
GALK1, ITGB4	0	1	0	0	0	0	1
ITGA6	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	1	3	210	36	67	0	317
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	22	17	0	0	0	0	39
Biomedical Innovation Departament, CIEMAT	24	0	0	0	0	0	24
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	3	0	0	0	0	3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	1	1	0	0	0	0	2
Centogene AG - the Rare Disease Company	0	1	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Molecular Genetics, Royal Melbourne Hospital	0	0	0	1	0	0	1

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