Variants studied for combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1

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
25	10	13	9	5	1	63

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
COL1A1	24	9	13	9	5	0	60
COL1A1, LOC126862586	1	1	0	0	0	1	3

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	12	4	11	8	4	0	39
Juno Genomics, Hangzhou Juno Genomics, Inc	8	4	1	0	0	0	13
OMIM	4	0	0	0	0	0	4
3billion, Medical Genetics	2	0	0	0	0	0	2
Institute of Human Genetics, University of Goettingen	0	1	0	0	0	0	1
MGZ Medical Genetics Center	0	0	1	0	0	0	1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	1	0	0	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	0	0	1	0	1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	0	1	0	0	0	1
Narges Medical Genetic and Prenatal Diagnosis Lab	0	0	0	1	0	0	1

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