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 not provided total
44 24 274 105 48 1 489

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 not provided total
DCTN1 1 0 242 98 32 0 373
SOD1 43 24 30 5 8 1 105
NEFH 0 0 2 2 8 0 11

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 14 6 255 101 35 0 411
OMIM 33 0 0 0 0 0 33
Illumina Clinical Services Laboratory,Illumina 0 0 15 2 6 0 23
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 5 14 0 0 0 0 19
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 2 6 0 8
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 7 0 8
Mendelics 0 0 4 0 2 0 6
Fulgent Genetics,Fulgent Genetics 2 0 3 0 0 0 5
Baylor Genetics 1 1 0 0 0 0 2
Institute of Human Genetics,Cologne University 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Columbia University Medical Center,Columbia University 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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