Variants studied for Primary coenzyme Q10 deficiency 8

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	not provided	total
10	4	6	0	3	2	19

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
COQ7	9	2	5	2	1	14
COQ7, COQ7-DT, LOC130058587	1	2	1	0	1	4
COQ7, LOC130058587	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
OMIM	6	0	0	0	0	6
Genome-Nilou Lab	0	0	0	3	0	3
Mendelics	2	0	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	2	0	0	2
Illumina Laboratory Services, Illumina	0	1	1	0	0	2
GenomeConnect, ClinGen	0	0	0	0	2	2
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong	0	1	1	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	2
Computational Genomics, IRCCS Azienda Ospedaliero-universitaria Di Bologna	2	0	0	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	1	0	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	0	1

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