Variants studied for Amyotrophic lateral sclerosis type 12

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
9	7	42	5	16	77

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
OPTN	6	7	32	3	8	54
LOC130003370, OPTN	0	0	6	1	5	12
LOC108903148, OPTN	2	0	4	1	3	10
LOC108903148, LOC108903149, OPTN	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	40	5	15	60
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	2	3	0	0	0	5
OMIM	4	0	0	0	0	4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	2	0	0	3
Molecular Genetics, Royal Melbourne Hospital	0	1	0	0	1	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	0	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	1	0	0	0	1
Kariminejad - Najmabadi Pathology & Genetics Center	0	1	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
3billion	1	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	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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