Variants studied for mitochondrial trifunctional protein deficiency 2

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
12	12	6	2	4	34

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
HADHB	12	12	6	2	4	34

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	1	7	1	0	0	9
OMIM	6	0	0	0	0	6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	2	4	6
Revvity Omics, Revvity	1	1	3	0	0	5
Baylor Genetics	0	1	1	0	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	1	0	0	0	2
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health	2	0	0	0	0	2
Undiagnosed Diseases Network, NIH	1	0	1	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP)	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	1

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