ClinVar Miner

Variants studied for Grn-related frontotemporal lobar degeneration with Tdp43 inclusions

Included ClinVar conditions (10):
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
68 9 80 53 31 234

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GRN 39 3 19 14 10 78
TARDBP 0 0 33 9 1 43
MAPT 17 1 11 6 5 40
CHMP2B 0 0 11 18 3 32
PSEN1 12 4 3 0 3 22
CHMP2B, POU1F1 0 0 0 2 6 8
MASP2, TARDBP 0 0 0 3 3 6
MARCHF4 0 0 1 1 0 2
MEF2C 0 1 1 0 0 2
LRRK2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 57 43 14 114
Invitae 19 1 14 9 14 57
OMIM 36 0 0 0 0 36
Human Genetics Group at Institute of Prion Diseases London,University College London 9 5 0 0 0 14
Athena Diagnostics Inc 0 0 0 0 9 9
Fulgent Genetics 3 2 4 0 0 9
Translational Genetics in Neurodegenerative disease,Karolinska Institutet 6 0 0 0 0 6
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 2
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 0 1 1 0 0 2
Myllykangas group,University of Helsinki 0 0 1 1 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 2
GeneReviews 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1

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