ClinVar Miner

Variants studied for combined oxidative phosphorylation defect type 23

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
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 8 12 1 5 1 34

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
GTPBP3 9 8 12 1 5 1 34

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OMIM 6 0 0 0 0 0 6
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 3 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Revvity Omics, Revvity 1 0 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 1 0 2
Pediatric Department, Xiangya Hospital, Central South University 1 1 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 0 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 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 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1

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