ClinVar Miner

Variants studied for Combined oxidative phosphorylation defect type 11

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 not provided total
15 16 73 7 4 1 110

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RMND1 15 16 73 7 4 1 110

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 2 10 64 7 1 0 84
OMIM 9 0 0 0 0 0 9
Baylor Genetics 2 0 5 0 0 0 7
Revvity Omics, Revvity 2 0 2 0 0 0 4
Genome-Nilou Lab 0 0 0 0 3 0 3
Mendelics 1 1 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 1 0 0 0 2
Gharavi Laboratory, Columbia University 2 0 0 0 0 0 2
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Department of Human Genetics, McGill University 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 1 0 0 0 0 1

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