Variants studied for Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 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
16	16	28	5	9	70

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
NCAPH2, SCO2	16	16	24	3	0	56
NCAPH2, SCO2, TYMP	0	0	1	1	4	6
SCO2	0	0	1	1	2	3
LOC130067861, SCO2	0	0	2	0	0	2
LOC130067861, SCO2, TYMP	0	0	0	0	2	2
LOC130067862, SCO2, TYMP	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	16	4	8	28
Baylor Genetics	7	14	5	0	0	26
OMIM	8	0	0	0	0	8
Genome-Nilou Lab	0	0	0	1	4	5
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	1	0	3	0	0	4
MGZ Medical Genetics Center	1	0	2	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	0	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	0	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	1	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	0	0	0	0	1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	0	1	0	0	0	1
Clinical Genomics Laboratory, Stanford Medicine	0	1	0	0	0	1

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