ClinVar Miner

Variants studied for Mitochondrial DNA depletion syndrome 9

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
21 9 125 107 14 1 256

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
SUCLG1 21 9 121 106 14 0 250
LOC129934178, SUCLG1 0 0 4 1 0 0 5
SUCLG2 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 8 6 92 100 12 0 218
Illumina Laboratory Services, Illumina 0 1 31 4 3 0 39
OMIM 6 0 0 0 0 0 6
Baylor Genetics 1 0 5 0 0 0 6
Revvity Omics, Revvity 0 1 4 0 0 0 5
Mendelics 5 0 0 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 2 0 1 0 3
3billion 0 0 1 2 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 1 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 0 2 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 0 0 0 0 1

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