ClinVar Miner

Variants studied for ALS2-related motor neuron disease

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
81 42 382 374 57 894

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ALS2 80 42 380 374 56 890
ALS2, LOC129935419 0 0 2 0 1 3
ALS2, MPP4, TMEM237 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 36 13 307 365 45 766
Illumina Laboratory Services, Illumina 0 0 79 9 17 105
OMIM 16 0 0 0 0 16
GeneReviews 15 0 0 0 0 15
Medical Molecular Genetics Department, National Research Center 9 2 0 0 0 11
Genome-Nilou Lab 0 0 0 0 10 10
Fulgent Genetics, Fulgent Genetics 2 1 2 3 0 8
Paris Brain Institute, Inserm - ICM 8 0 0 0 0 8
Cirak Lab, University Hospital Cologne 2 5 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 1 0 6
3billion 1 2 2 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 1 0 0 5
Institute of Human Genetics Munich, TUM University Hospital 5 0 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 0 0 0 4
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 2 2 0 0 0 4
Baylor Genetics 0 1 2 0 0 3
Mendelics 1 2 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Medical Genetics, Christian Medical College 2 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 1 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 1 0 0 0 1
Pars Genome Lab 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 1
Sadaf Naz Human Genetics Laboratory, University of the Punjab 1 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1

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