Variants studied for early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

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
7	9	18	1	6	40

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
TRAPPC12	7	9	17	1	6	39
LIPT2	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Neuberg Centre For Genomic Medicine, NCGM	0	2	4	0	0	6
Genome-Nilou Lab	0	0	0	0	5	5
Baylor Genetics	0	1	3	0	0	4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	2	0	0	4
OMIM	3	0	0	0	0	3
Revvity Omics, Revvity	0	0	3	0	0	3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	2	0	0	3
Fulgent Genetics, Fulgent Genetics	0	0	1	1	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	1	0	0	2
Provincial Medical Genetics Program of British Columbia, University of British Columbia	0	0	2	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	0	0	1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	0	0	0	1	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Hadassah Hebrew University Medical Center	0	1	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	1	0	0	0	1
Breakthrough Genomics, Breakthrough Genomics	0	1	0	0	0	1

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