Variants studied for Amyotrophic lateral sclerosis type 4

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
6	9	223	97	80	397

Gene and significance breakdown #

Total genes and gene combinations: 3

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SETX	6	9	220	95	78	390
LOC126860783, SETX	0	0	2	1	1	4
LOC126860782, SETX	0	0	1	1	1	3

Submitter and significance breakdown #

Total submitters: 27

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Genome-Nilou Lab	0	0	99	66	40	205
Illumina Laboratory Services, Illumina	0	0	102	32	58	192
Neuberg Centre For Genomic Medicine, NCGM	0	0	11	0	0	11
Mendelics	1	1	1	0	3	6
MGZ Medical Genetics Center	0	0	4	0	0	4
OMIM	3	0	0	0	0	3
Baylor Genetics	0	0	3	0	0	3
Inherited Neuropathy Consortium Ii, University Of Miami	0	0	3	0	0	3
Solve-RD Consortium	0	3	0	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	2	0	0	2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	0	2	0	0	2
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	1
Institute of Human Genetics, Cologne University	0	0	1	0	0	1
Centogene AG - the Rare Disease Company	0	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	1
Northcott Neuroscience Laboratory, ANZAC Research Institute	1	0	0	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	1	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	0	1	0	0	0	1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	0	0	1	0	0	1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	0	0	1	0	0	1
Lifecell International Pvt. Ltd	1	0	0	0	0	1
Paris Brain Institute, Inserm - ICM	1	0	0	0	0	1
Suma Genomics	0	1	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	1	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.