ClinVar Miner

Variants studied for Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Coded as:
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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
18 16 65 0 12 105

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
TBCD 18 15 61 11 99
LOC126862673, TBCD 0 1 1 1 3
LOC130062062, TBCD 0 0 2 0 2
TBCD, ZNF750 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance benign total
Baylor Genetics 2 2 20 0 24
Revvity Omics, Revvity 1 2 19 0 22
Genome-Nilou Lab 0 0 0 12 12
OMIM 10 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 8 0 8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 5 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 6 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 1 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 2 0 2
Fulgent Genetics, Fulgent Genetics 0 1 1 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 2
Medical Genetics Laboratory, West China Hospital, Sichuan University 2 0 0 0 2
New York Genome Center 0 1 1 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 2
PreventionGenetics, part of Exact Sciences 0 0 1 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 1
3billion 0 0 1 0 1
Suma Genomics 1 0 0 0 1

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