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:
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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 not provided total
29 5 355 487 359 2 1221

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SETX 29 5 352 480 355 2 1207
LOC126860782, SETX 0 0 3 7 4 0 14

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 29 5 332 485 359 0 1210
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 2 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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