Variants studied for Multiple mitochondrial dysfunctions syndrome 4

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
3	1	6	0	0	3	10

Gene and significance breakdown #

Total genes and gene combinations: 1

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	not provided	total
ISCA2	3	1	6	3	10

Submitter and significance breakdown #

Total submitters: 13

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	not provided	total
OMIM	3	0	0	0	3
GeneReviews	0	0	0	3	3
Baylor Genetics	1	0	1	0	2
Revvity Omics, Revvity	1	0	1	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	1	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	0	0	0	1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	1	0	0	0	1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	0	0	1	0	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	1	0	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.