ClinVar Miner

Variants studied for thiamine-responsive dysfunction syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
125 53 522 354 72 3 1082

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC19A3 61 28 264 245 46 1 611
TPK1 31 15 108 97 4 0 248
SLC19A2 17 8 108 4 13 0 147
SLC25A19 9 2 15 5 3 2 34
MIF4GD-DT, SLC25A19 3 0 7 3 6 0 19
LOC129931894, SLC19A2 2 0 17 0 0 0 18
NOBOX, TPK1 1 0 2 0 0 0 3
C2orf83, SLC19A3 1 0 0 0 0 0 1
LOC120893165, SLC19A2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 71 15 311 325 23 0 745
Illumina Laboratory Services, Illumina 2 0 126 23 55 0 206
Fulgent Genetics, Fulgent Genetics 9 20 80 4 0 0 113
OMIM 32 0 0 0 0 0 32
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 5 7 0 16
Baylor Genetics 5 0 8 0 0 0 13
Laboratory of Metabolic Disorders, Peking University First Hospital 12 0 0 0 0 0 12
Revvity Omics, Revvity 2 1 7 1 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 3 0 0 0 0 8
Genome-Nilou Lab 0 0 0 0 6 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 3 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 2 0 0 0 5
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 4 0 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 2 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 1 2 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 1 0 3
Mendelics 1 0 0 0 1 0 2
GeneReviews 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Applied Translational Genetics Group, University of Auckland 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 1 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 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 0 2
New York Genome Center 0 0 2 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 1
3billion, Medical Genetics 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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