ClinVar Miner

Variants studied for 3-methylglutaconic aciduria type 9

Coded as:
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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 total
9 2 6 2 4 23

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TIMM50 9 2 5 2 4 22
​intergenic 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 6 0 0 0 0 6
Genome-Nilou Lab 0 0 0 0 4 4
Baylor Genetics 0 0 3 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Mitochondrial Research Group, Murdoch Children's Research Institute 1 0 0 0 0 1
DASA 0 1 0 0 0 1

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