ClinVar Miner

Variants studied for Triosephosphate isomerase deficiency

Coded as:
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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
8 2 40 10 12 67

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 total
TPI1 8 2 40 10 12 67

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 1 0 24 6 10 41
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 4 8 18
Revvity Omics, Revvity Omics 0 0 12 0 0 12
OMIM 7 0 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Palladino Lab, Pittsburgh Institute for Neurodegenerative Disease 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 1
3billion 0 0 1 0 0 1
Suma Genomics 0 0 1 0 0 1

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