Variants studied for CFHR5 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
2	0	27	17	14	53

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	total
CFHR5	2	27	17	14	53

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	uncertain significance	likely benign	benign	total
Genome-Nilou Lab	0	17	13	12	42
Fulgent Genetics, Fulgent Genetics	0	5	9	2	16
Revvity Omics, Revvity	0	4	0	0	4
Baylor Genetics	0	2	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	2	0	0	2
Centogene AG - the Rare Disease Company	0	1	0	0	1
Mendelics	0	0	0	1	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	1	0	0	1
Center of Genomic medicine, Geneva, University Hospital of Geneva	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	1	0	0	1
New York Genome Center	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	1

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