Variants studied for Autosomal recessive congenital ichthyosis 3

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
43	3	58	4	19	2	126

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
ALOXE3	32	3	48	3	16	2	101
ALOXE3, LOC126862485	2	0	7	1	3	0	13
ALOXE3, LOC130060198	8	0	3	0	0	0	11
ALOXE3, GUCY2D	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	1	0	53	4	15	0	73
Institute for Human Genetics, University Medical Center Freiburg	37	0	0	0	0	0	37
OMIM	7	0	1	0	0	0	8
Genome-Nilou Lab	0	0	0	0	5	0	5
Revvity Omics, Revvity	2	2	0	0	0	0	4
Baylor Genetics	0	1	1	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	1	0	0	0	2
Department of Molecular and Human Genetics, Baylor College of Medicine	2	0	0	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	2	2
Knight Diagnostic Laboratories, Oregon Health and Sciences University	1	0	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	0	1	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	1	0	0	0	1
Dr.Nikuei Genetic Center	0	0	0	0	1	0	1

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