ClinVar Miner

Variants studied for Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Coded as:
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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
28 13 108 89 4 236

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
TPK1 27 13 106 89 4 233
NOBOX, TPK1 1 0 2 0 0 3

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 21 7 104 88 4 224
OMIM 8 0 0 0 0 8
Revvity Omics, Revvity 0 0 4 0 0 4
Fulgent Genetics, Fulgent Genetics 1 1 1 1 0 4
Baylor Genetics 2 0 1 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 2
Laboratory of Metabolic Disorders, Peking University First Hospital 2 0 0 0 0 2
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Breda Genetics srl 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 1

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