ClinVar Miner

Variants studied for amyotrophic lateral sclerosis type 10

Included ClinVar conditions (3):
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
22 7 60 10 12 99

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 total
TARDBP 22 7 59 10 11 97
MASP2, TARDBP 0 0 1 0 1 2

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 47 9 9 65
Invitae 2 0 12 1 4 19
GeneReviews 13 0 3 0 0 16
OMIM 13 0 0 0 0 13
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory,Koc University 1 5 0 0 0 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 1 2
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 1
Codex Genetics Limited 0 1 0 0 0 1

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