ClinVar Miner

Variants studied for neurodegeneration with brain iron accumulation 2B

Included ClinVar conditions (3):
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 total
28 47 30 1 0 101

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 total
PLA2G6 28 47 30 1 101

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Fulgent Genetics, Fulgent Genetics 16 32 23 1 72
Neuberg Centre For Genomic Medicine, NCGM 2 3 3 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 4 1 0 0 5
Genetic Services Laboratory, University of Chicago 1 3 0 0 4
OMIM 3 0 0 0 3
Solve-RD Consortium 0 3 0 0 3
Baylor Genetics 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 2
New York Genome Center 0 0 2 0 2
Molecular Genetics Lab, CHRU Brest 0 2 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 1
Suma Genomics 1 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 1
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 1 0 1

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