ClinVar Miner

Variants studied for combined oxidative phosphorylation defect type 11

Included ClinVar conditions (1):
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
9 3 8 0 0 1 19

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
RMND1 9 3 8 1 19

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance not provided total
Baylor Genetics 1 0 6 0 7
OMIM 6 0 0 0 6
Mendelics 1 1 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 1 0 2
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 0 2 0 2
Department of Human Genetics,McGill University 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 1
Precision Medicine Center,Zhengzhou University 0 1 0 0 1

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