ClinVar Miner

Variants studied for amyotrophic lateral sclerosis type 1

Included ClinVar conditions (2):
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
36 4 86 32 30 185

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DCTN1 1 0 80 30 21 132
SOD1 35 4 6 0 2 45
NEFH 0 0 0 2 7 8

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 8 3 85 30 23 149
OMIM 33 0 0 0 0 33
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 2 6 8
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 7 8
Fulgent Genetics 2 0 3 0 0 5
Institute of Human Genetics,Cologne University 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1

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