ClinVar Miner

Variants studied for autosomal recessive congenital ichthyosis 3

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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 11 61 4 19 2 135

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 8 51 3 16 2 107
ALOXE3, LOC126862485 2 1 7 1 3 0 14
ALOXE3, LOC130060198 8 2 3 0 0 0 13
ALOXE3, GUCY2D 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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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
Fulgent Genetics, Fulgent Genetics 2 7 0 0 0 0 9
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
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
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
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1

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