ClinVar Miner

Variants in gene TPK1

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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
37 20 129 114 30 313

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 31 15 108 97 4 248
not provided 10 7 22 15 24 76
Inborn genetic diseases 0 0 18 1 0 19
not specified 0 0 1 4 4 9
TPK1-related disorder 0 0 0 6 2 8
Leigh syndrome 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 23 8 103 98 4 236
GeneDx 6 6 15 13 27 67
Ambry Genetics 0 0 18 1 0 19
Breakthrough Genomics, Breakthrough Genomics 0 0 0 4 8 12
OMIM 8 0 0 0 0 8
PreventionGenetics, part of Exact Sciences 0 0 0 6 2 8
CeGaT Center for Human Genetics Tuebingen 0 0 2 4 0 6
Fulgent Genetics, Fulgent Genetics 1 1 2 1 0 5
Revvity Omics, Revvity 0 0 4 0 0 4
Bionano Laboratories 4 0 0 0 0 4
Baylor Genetics 2 0 1 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 3 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
Eurofins Ntd Llc (ga) 0 1 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 1 2
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 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
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 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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