Variants studied for lipoyl transferase 1 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	not provided	total
6	6	4	0	2	1	17

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
LIPT1, MITD1	6	6	4	2	1	17

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
OMIM	4	0	0	0	0	4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	2	0	0	0	3
Baylor Genetics	1	0	1	0	0	2
Elsea Laboratory, Baylor College of Medicine	0	1	1	0	0	2
Fulgent Genetics, Fulgent Genetics	1	1	0	0	0	2
Genome-Nilou Lab	0	0	0	2	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	1	1	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	1
Revvity Omics, Revvity	0	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	1
UCLA Clinical Genomics Center, UCLA	1	0	0	0	0	1
Daryl Scott Lab, Baylor College of Medicine	1	0	0	0	0	1
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute, UT Southwestern Medical Center at Dallas	1	0	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	1	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	1	1

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