ClinVar Miner

Variants studied for amyotrophic lateral sclerosis type 12

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
43 13 175 88 29 337

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
OPTN 33 12 139 77 18 269
LOC108903148, OPTN 6 1 30 10 6 52
LOC130003370, OPTN 0 0 6 1 5 12
CAMK1D, CCDC3, OPTN 1 0 0 0 0 1
LOC108903148, LOC108903149, LOC121366042, LOC130003372, LOC130003373, MCM10, OPTN 1 0 0 0 0 1
LOC108903148, LOC108903149, LOC130003372, OPTN 1 0 0 0 0 1
LOC108903148, LOC108903149, OPTN 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 38 9 138 82 22 289
Illumina Laboratory Services, Illumina 0 0 41 5 15 61
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 2 3 0 0 0 5
OMIM 4 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 0 1 1 2
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 1 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 1

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