ClinVar Miner

Variants studied for Combined oxidative phosphorylation defect type 27

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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
6 2 355 287 29 2 669

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CARS2 5 2 308 263 27 2 596
CARS2, LOC130010127 1 0 45 24 2 0 71
CARS2, NAXD 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 348 286 25 0 659
Baylor Genetics 0 0 9 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 6 2 0 0 8
Genome-Nilou Lab 0 0 0 0 6 0 6
OMIM 5 0 0 0 0 0 5
Revvity Omics, Revvity 0 0 5 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa 0 1 0 0 0 0 1

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