ClinVar Miner

Variants studied for leukoencephalopathy with calcifications and cysts

Included ClinVar conditions (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
47 5 7 0 0 52

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SNORD118, TMEM107 42 4 7 46
ALOX12B, SNORD118 3 0 0 3
LOC130060223, SNORD118, TMEM107 2 0 0 2
BORCS6, LOC105371520, LOC130060222, LOC130060223, LOC130060224, LOC130060225, MIR4521, SNORD118, TMEM107 0 1 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance total
Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine 44 0 0 44
OMIM 6 0 0 6
Illumina Laboratory Services, Illumina 0 1 4 5
Undiagnosed Diseases Network, NIH 0 2 2 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 2

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