ClinVar Miner

Variants studied for Combined oxidative phosphorylation defect type 24

Coded as:
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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 not provided total
16 8 16 0 2 1 38

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
NARS2 15 7 14 2 1 35
LOC130006506, NARS2 1 1 1 0 0 2
LOC130006508, NARS2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
OMIM 11 0 0 0 0 11
Baylor Genetics 0 0 6 0 0 6
SIB Swiss Institute of Bioinformatics 0 2 2 0 0 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 2 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Mendelics 0 1 0 1 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 2
Dept Of Pediatric Neurology, First Hospital Of Jilin University 0 0 2 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 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 1
ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Iran University of Medical Sciences 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 1

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