ClinVar Miner

Variants studied for frontotemporal dementia and/or amyotrophic lateral sclerosis 2

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
4 2 103 69 10 2 187

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
CHCHD10 3 2 101 69 10 2 184
C22orf15, CHCHD10 0 0 2 0 0 0 2
SPG7 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 1 102 69 9 0 183
Genome-Nilou Lab 0 0 0 0 4 0 4
GeneReviews 0 0 0 0 0 2 2
Human Genetics Bochum, Ruhr University Bochum 2 0 0 0 0 0 2
OMIM 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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