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
43	13	174	88	29	336

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	138	77	18	268
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
Fulgent Genetics, Fulgent Genetics	0	0	0	1	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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	1	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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