Variants studied for dystrophic epidermolysis bullosa pruriginosa

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
27	16	41	7	2	89

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
COL7A1	27	16	41	7	2	89

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	19	8	32	7	2	68
Centre for Mendelian Genomics, University Medical Centre Ljubljana	6	1	3	0	0	10
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	2	1	0	0	3
Neuberg Centre For Genomic Medicine, NCGM	1	0	2	0	0	3
Baylor Genetics	0	0	2	0	0	2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	1	1	0	0	0	2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	1	0	0	0	2
Juno Genomics, Hangzhou Juno Genomics, Inc	0	2	0	0	0	2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	1	0	0	0	0	1
Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center	0	1	0	0	0	1
3billion	0	0	1	0	0	1

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