ClinVar Miner

Variants studied for Amyotrophic lateral sclerosis type 1

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
80 66 82 46 21 1 266

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SOD1 63 50 50 36 7 0 184
SOD1, SOD1-DT 15 12 21 8 4 1 55
NEFH 0 0 2 2 8 0 11
PRPH, TROAP 0 1 4 0 1 0 6
DCTN1 0 0 4 0 1 0 5
SCAF4, SOD1 2 1 0 0 0 0 2
ATP5PO, CBR1, CBR3, CFAP298, CHAF1B, CLDN14, CLIC6, CRYZL1, DNAJC28, DONSON, DOP1B, DYRK1A, EPCIP, EVA1C, GART, HLCS, HUNK, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITSN1, KCNE1, KCNE2, KCNJ6, MIS18A, MORC3, MRAP, MRPS6, OLIG1, OLIG2, PAXBP1, PIGP, RCAN1, RIPPLY3, RUNX1, SCAF4, SETD4, SIM2, SLC5A3, SMIM11, SOD1, SON, SYNJ1, TCP10L, TIAM1, TMEM50B, TTC3, URB1, VPS26C 0 0 1 0 0 0 1
LOC124629354, PRPH, TROAP 0 1 0 0 0 0 1
UNC13A 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 55 31 56 42 6 0 190
OMIM 33 0 0 0 0 0 33
Illumina Laboratory Services, Illumina 0 0 15 2 6 0 23
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 6 14 0 0 0 0 20
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 5 10 0 0 0 0 15
Mendelics 2 1 3 0 2 0 8
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 6 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 7 0 8
MGZ Medical Genetics Center 1 4 2 0 0 0 7
Kariminejad - Najmabadi Pathology & Genetics Center 2 4 1 0 0 0 7
3billion 2 2 1 0 0 0 5
Fulgent Genetics, Fulgent Genetics 2 0 1 0 1 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 2 1 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 2 0 0 0 0 3
Institute of Human Genetics, Cologne University 2 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 0 0 0 1
Inheritance Genetic Center 1 0 0 0 0 0 1
Genetics Department, Catlab 1 0 0 0 0 0 1

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