ClinVar Miner

Variants studied for Mitochondrial complex 1 deficiency, nuclear type 4

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
9 12 16 0 0 33

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
NDUFV1 5 6 11 21
LOC126861242, NDUFV1 4 6 5 12

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance total
Revvity Omics, Revvity 4 1 5 10
Baylor Genetics 1 2 5 8
OMIM 4 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 2 1 4
Fulgent Genetics, Fulgent Genetics 1 0 2 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 3
3billion 2 1 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 1
Centogene AG - the Rare Disease Company 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 0 0 1
New York Genome Center 0 0 1 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 1
DASA 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 1

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