ClinVar Miner

Variants studied for autosomal dominant pure spastic paraplegia

Included ClinVar conditions (6):
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 8 134 66 38 258

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
WASHC5 16 5 91 40 30 172
CPT1C 1 1 24 22 7 55
RTN2 4 2 13 4 0 23
SLC33A1 1 0 2 0 1 4
DNM1L 0 0 1 0 0 1
NSD1 0 0 1 0 0 1
SETBP1 0 0 1 0 0 1
TBK1 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
Invitae 7 2 78 52 24 163
Illumina Clinical Services Laboratory,Illumina 0 0 48 15 26 89
OMIM 10 0 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 6 1 0 7
Paris Brain Institute,Inserm - ICM 7 0 0 0 0 7
Baylor Genetics 0 2 3 0 0 5
GeneReviews 4 0 0 0 0 4
Athena Diagnostics Inc 0 0 0 0 3 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 1

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