ClinVar Miner

Variants studied for Hereditary spastic paraplegia 8

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
10 6 54 11 26 4 106

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 not provided total
WASHC5 10 6 44 11 20 4 90
LOC126860498, WASHC5 0 0 4 0 3 0 7
LOC130001093, WASHC5 0 0 1 0 2 0 3
LOC130001092, WASHC5 0 0 1 0 1 0 2
DNM1L 0 0 1 0 0 0 1
NSD1 0 0 1 0 0 0 1
SETBP1 0 0 1 0 0 0 1
TBK1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 36 11 26 0 73
Paris Brain Institute, Inserm - ICM 7 0 0 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 5 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 0 5
OMIM 4 0 0 0 0 0 4
GeneReviews 0 0 0 0 0 4 4
Athena Diagnostics 0 0 0 0 3 0 3
Human Genetics Bochum, Ruhr University Bochum 0 1 2 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
3billion, Medical Genetics 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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