ClinVar Miner

Variants studied for Hereditary diffuse leukoencephalopathy with spheroids

Coded as:
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
17 11 62 20 65 26 190

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CSF1R 17 10 56 16 59 26 173
CSF1R, LOC111188156 0 0 4 2 1 0 7
CSF1R, LOC111188152 0 0 2 0 3 0 5
CSF1R, LOC111188154 0 0 0 2 2 0 4
AARS1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 51 17 63 0 132
GeneReviews 3 0 0 0 0 25 28
OMIM 9 0 0 0 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 6 0 9
Institute of Human Genetics, University of Leipzig Medical Center 0 5 3 0 0 0 8
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 3 5 0 8
Genome-Nilou Lab 0 0 0 0 6 0 6
Baylor Genetics 1 1 3 0 0 0 5
Mendelics 1 0 1 0 0 0 2
3billion 0 1 1 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Institute of Human Genetics, Martin Luther University Halle-Wittenberg 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Guerreiro-Bras Laboratory, Van Andel Institute 0 1 0 0 0 0 1
Molecular Lab, Department of Haematology, Christian Medical College 0 0 1 0 0 0 1

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