Variants studied for Multiple mitochondrial dysfunctions syndrome 2

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	4	21	2	0	28

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
BOLA3	4	4	19	2	26
BOLA3, TET3	0	0	2	0	2

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Illumina Laboratory Services, Illumina	0	0	11	1	12
OMIM	4	0	0	0	4
Baylor Genetics	0	0	4	0	4
Revvity Omics, Revvity	1	1	2	0	4
Neuberg Centre For Genomic Medicine, NCGM	1	0	2	0	3
Fulgent Genetics, Fulgent Genetics	0	0	1	1	2
Bruce Lefroy Centre, Murdoch Childrens Research Institute	1	1	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	0	1
3billion	1	0	0	0	1
Genomics England Pilot Project, Genomics England	0	1	0	0	1

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