ClinVar Miner

Variants studied for Leukoencephalopathy with vanishing white matter 1

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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
4 9 13 0 0 26

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
EIF2B1 1 2 5 8
EIF2B5 2 1 4 7
EIF2B3 0 2 1 3
EIF2B4 0 3 0 3
EIF2B1, LOC126861664 0 0 2 2
EIF2B2 0 1 1 2
EIF2B4, GTF3C2 1 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance total
Neuberg Centre For Genomic Medicine, NCGM 2 3 6 11
Revvity Omics, Revvity 0 1 2 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 3
Solve-RD Consortium 0 3 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 1

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