ClinVar Miner

Variants studied for mitochondrial complex 4 deficiency, nuclear type 17

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
7 5 9 8 2 29

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
COA8 6 5 9 8 2 28
AMN, BAG5, CDC42BPB, CKB, COA8, EIF5, EIF5-DT, EXOC3L4, LBHD2, LINC00605, LINC00677, LOC105378183, LOC112163684, LOC116268464, LOC121838600, LOC121838601, LOC125078042, LOC125078043, LOC126862063, LOC126862064, LOC126862065, LOC126862066, LOC126862067, LOC126862068, LOC130056529, LOC130056530, LOC130056531, LOC130056532, LOC130056533, LOC130056534, LOC130056535, LOC130056536, LOC130056537, LOC130056538, LOC130056539, LOC130056540, LOC130056541, LOC130056542, LOC130056543, LOC130056544, LOC130056545, LOC130056546, LOC130056547, LOC130056548, LOC130056549, LOC130056550, LOC130056551, LOC130056552, LOC130056553, LOC130056554, LOC130056555, LOC130056556, LOC130056557, LOC130056558, LOC130056559, LOC130056560, LOC130056561, LOC130056562, LOC130056563, LOC130056564, LOC130056565, LOC130056566, LOC130056567, LOC130056568, LOC130056569, LOC130056570, LOC130056571, LOC130056572, LOC130056573, LOC130056574, LOC130056575, LOC130056576, LOC130056577, LOC130056578, LOC130056579, LOC130056580, LOC130056581, LOC130056582, LOC130056583, LOC130056584, LOC130056585, LOC130056586, LOC130056587, MARK3, RCOR1, SNORA28, TNFAIP2, TRAF3, TRMT61A 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 1 0 8 7 1 17
OMIM 4 0 0 0 0 4
Revvity Omics, Revvity 0 1 0 1 0 2
3billion 1 1 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 1
MyeliNeuroGene Lab, McGill University Health Center Research Institute 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 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 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Department of Pathophysiology and Transplantation, University of Milan 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 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.