Variants studied for Deficiency of cytochrome-b5 reductase

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
7	8	22	0	0	33

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
CYB5R3	7	8	20	31
CYB5R3, LOC130067609	0	0	2	2

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
Revvity Omics, Revvity	2	2	18	22
Fulgent Genetics, Fulgent Genetics	2	1	2	5
Neuberg Centre For Genomic Medicine, NCGM	1	0	2	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	2
Mendelics	2	0	0	2
Genetics and Molecular Pathology, SA Pathology	0	2	0	2
Illumina Laboratory Services, Illumina	0	1	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	1	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	1
Hb Lab, Kinderklinik Ulm, University Hospital Ulm	1	0	0	1
Suma Genomics	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	1

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