ClinVar Miner

Variants studied for Spastic paraplegia 11, autosomal recessive

Coded as:
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
134 14 236 69 42 1 475

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SPG11 133 14 236 69 42 1 474
​intergenic 1 0 0 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 49 9 230 55 35 0 378
GeneReviews 98 0 0 0 7 0 105
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 14 4 0 18
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 9 0 13
OMIM 12 0 0 0 0 0 12
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 5 3 0 8
Illumina Clinical Services Laboratory,Illumina 0 1 5 0 0 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 5 0 0 6
Athena Diagnostics Inc 0 0 0 0 5 0 5
HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 1 0 0 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences,The Chinese University of Hong Kong, Hong Kong 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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