Variants studied for Acral peeling skin 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	not provided	total
7	9	39	7	15	2	74

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	not provided	total
TGM5	7	9	39	7	15	2	74

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	2	1	35	6	15	0	59
OMIM	6	0	0	0	0	0	6
Revvity Omics, Revvity	1	3	2	0	0	0	6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	2	0	0	0	4
Fulgent Genetics, Fulgent Genetics	1	2	0	0	0	0	3
Mendelics	1	1	0	0	0	0	2
GeneReviews	0	0	0	0	0	2	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	2	0	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	1	0	1	0	0	0	2
Baylor Genetics	0	0	0	1	0	0	1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	1	0	0	0	0	0	1
Institute of Human Genetics, Cologne University	0	1	0	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	0	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	0	1
Molecular Genetics, Royal Melbourne Hospital	1	0	0	0	0	0	1

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