ClinVar Miner

Variants studied for Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
33 5 407 544 387 3 1361

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SETX 33 5 404 537 383 3 1347
LOC126860782, SETX 0 0 3 7 4 0 14

Submitter and significance breakdown #

Total submitters: 6
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 33 5 384 542 387 0 1351
Fulgent Genetics, Fulgent Genetics 0 0 13 3 0 0 16
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 11 0 0 0 11
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.