Variants studied for combined oxidative phosphorylation deficiency 44

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
8	6	28	14	4	59

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	benign	total
FASTKD2	5	6	26	13	4	53
FASTKD2, LOC126806484	3	0	2	0	0	5
FASTKD2, LOC129935479	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	0	2	22	14	0	38
OMIM	6	0	0	0	0	6
Revvity Omics, Revvity	1	0	3	0	0	4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	0	2	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	0	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	1	0	0	2
Baylor Genetics	0	0	1	0	0	1
Mendelics	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	0	0	1	1
Genome-Nilou Lab	0	0	0	0	1	1
3billion	0	1	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	1	0	0	1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar	0	1	0	0	0	1

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