ClinVar Miner

Variants studied for amyotrophic lateral sclerosis type 5

Included ClinVar conditions (4):
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 not provided total
23 7 163 32 10 9 237

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SPG11 23 7 159 32 10 8 232
LOC130056971, SPG11 0 0 2 0 0 0 2
LOC130056973, SPG11 0 0 2 0 0 0 2
TRPV4 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 4 2 151 30 8 0 195
Fulgent Genetics, Fulgent Genetics 8 3 13 3 2 0 29
Baylor Genetics 5 0 10 0 0 0 15
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 9 9
OMIM 6 0 0 0 0 0 6
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 3 1 0 0 0 0 4
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1

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