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
44	14	176	88	29	340

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	34	13	140	77	18	272
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	39	10	139	82	22	292
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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