ClinVar Miner

Variants studied for hypomyelinating leukodystrophy 9

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
9 6 16 3 5 36

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RARS1 9 6 16 3 5 36

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 1 1 9 0 0 11
OMIM 7 0 0 0 0 7
Revvity Omics, Revvity 0 1 3 1 0 5
Genome-Nilou Lab 0 0 0 0 5 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 3 0 0 0 0 3
3billion, Medical Genetics 1 1 1 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 1 0 1 0 2
Mendelics 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 1

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