Variants studied for Ehlers-Danlos syndrome, periodontal type 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	total
17	2	10	3	0	31

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	total
C1R	14	1	10	3	28
C1S	2	0	0	0	2
C1R, C1RL	1	1	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Institute of Human Genetics, Medical University Innsbruck	16	0	0	0	16
OMIM	7	0	0	0	7
Revvity Omics, Revvity	0	0	3	0	3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	2	1	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	0	2	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	1	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	0	1	0	1
Institute of Human Genetics, Cologne University	0	0	1	0	1
Centogene AG - the Rare Disease Company	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations	0	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	1	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	1	0	1

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