ClinVar Miner

Variants studied for Amyotrophic lateral sclerosis type 21

Coded as:
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
4 1 238 168 52 444

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MATR3 3 1 187 136 48 362
LOC126807526, MATR3 1 0 48 32 3 78
MATR3, SNHG4 0 0 2 0 1 3
LOC129994755, MATR3, SNHG4 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 9
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 192 165 16 374
Illumina Laboratory Services, Illumina 0 0 43 6 44 93
Revvity Omics, Revvity 1 0 14 0 0 15
OMIM 4 0 0 0 0 4
UniProtKB/Swiss-Prot 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 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.