ClinVar Miner

Variants studied for amyotrophic lateral sclerosis type 10

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
20 16 95 60 18 16 197

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TARDBP 18 15 89 60 17 16 187
ERBB4 0 0 2 0 0 0 2
MASP2, TARDBP 0 0 1 0 1 0 2
ANG, EGILA, RNASE4 0 0 1 0 0 0 1
GRN 1 0 0 0 0 0 1
LOC124629354, PRPH, TROAP 0 0 1 0 0 0 1
OPTN 0 1 0 0 0 0 1
SOD1 1 0 0 0 0 0 1
TUBA4A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 11 6 43 54 11 0 125
Illumina Laboratory Services, Illumina 0 0 47 9 9 0 65
GeneReviews 0 0 0 0 0 16 16
OMIM 13 0 0 0 0 0 13
Human Genetics Bochum, Ruhr University Bochum 3 3 6 0 0 0 12
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 6 0 0 0 0 7
Baylor Genetics 0 0 2 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 1 0 2
Revvity Omics, Revvity 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Codex Genetics Limited 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
DASA 0 1 0 0 0 0 1
Department of Neurology-Cell Therapy Center, Hanyang University 1 0 0 0 0 0 1

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