Variants studied for Complement component 5 deficiency

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
4	2	14	1	0	21

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	total
C5	4	2	13	1	20
C5, LOC130002496	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Baylor Genetics	2	0	3	0	5
Department of Pathology and Laboratory Medicine, Sinai Health System	0	1	4	0	5
OMIM	4	0	0	0	4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	1	0	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	2	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	2
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	0	1	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	1
New York Genome Center	0	0	1	0	1

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