ClinVar Miner

Variants studied for fatal multiple mitochondrial dysfunctions syndrome

Included ClinVar conditions (10):
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 not provided total
67 29 187 107 21 5 392

Gene and significance breakdown #

Total genes and gene combinations: 16
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
IBA57 26 12 86 69 9 0 198
NFU1 8 6 49 29 9 0 93
BOLA3 4 4 19 2 0 0 26
PMPCB 5 3 11 1 1 0 21
LOC129934004, NFU1 1 0 8 6 2 0 16
ISCA2 3 2 6 0 0 3 10
FDXR 8 0 0 0 0 0 8
GCSH 6 0 0 0 0 0 6
LOC129999056, PMPCB 0 1 3 0 0 0 4
ARF1, C1orf35, GJC2, GUK1, IBA57, MRPL55, OBSCN, WNT3A 1 0 1 0 0 0 2
BOLA3, TET3 0 0 2 0 0 0 2
ISCA1, LOC130001967 1 0 1 0 0 1 2
FDXR, LOC112533667 1 0 0 0 0 0 1
GCSH, LOC130059495 1 0 0 0 0 0 1
ISCA1 1 1 1 0 0 1 1
THAP1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 14 6 120 104 18 0 262
OMIM 51 0 0 0 0 0 51
Illumina Laboratory Services, Illumina 0 1 35 1 7 0 44
Baylor Genetics 2 1 12 0 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 1 2 10 0 0 0 13
Revvity Omics, Revvity 3 1 6 0 0 0 10
GeneReviews 0 0 0 0 0 5 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 3 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 0 0 0 0 0 4
New York Genome Center 0 2 2 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 3 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 1 0 0 0 3
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 3 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
3billion 1 0 1 0 0 0 2
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 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 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 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.