ClinVar Miner

Variants studied for Hypomyelinating leukodystrophy 10

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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
8 19 10 1 2 35

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PYCR2 8 19 9 1 2 34
MIR6741, PYCR2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 6 0 0 0 0 6
Revvity Omics, Revvity 1 2 2 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 2 0 1 0 3
Baylor Genetics 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 2
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 2 0 0 0 2
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
3billion, Medical Genetics 1 0 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 1
Suma Genomics 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1

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