Variants studied for Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
30	14	108	89	4	239

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	29	14	106	89	4	236
NOBOX, TPK1	1	0	2	0	0	3

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	22	8	104	88	4	226
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	2	0	0	0	0	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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	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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