ClinVar Miner

Variants in gene SPG11

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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
152 29 314 98 44 1 567

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Spastic paraplegia 11, autosomal recessive 133 14 236 69 42 1 474
not provided 30 13 35 9 6 0 88
Spastic Paraplegia, Recessive 0 0 57 7 1 0 65
not specified 0 0 11 33 19 0 55
Charcot-Marie-Tooth disease, axonal type 2X 7 0 0 0 0 0 7
Amyotrophic lateral sclerosis type 5 6 0 0 0 0 0 6
Amyotrophic lateral sclerosis type 5; Spastic paraplegia 11, autosomal recessive; Charcot-Marie-Tooth disease, axonal type 2X 1 0 5 0 0 0 6
Hereditary spastic paraplegia 2 0 2 0 0 0 4
Amyotrophic lateral sclerosis type 5; Spastic paraplegia 11, autosomal recessive 1 0 1 0 0 0 2
Gait disturbance; Spastic paraparesis; Difficulty walking; Generalized hyperreflexia 0 2 0 0 0 0 2
Abnormality of brain morphology 0 1 0 0 0 0 1
Spastic paraplegia 11, autosomal recessive; Charcot-Marie-Tooth disease, axonal type 2X 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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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 97 0 0 0 7 0 104
GeneDx 20 9 9 23 18 0 79
Illumina Clinical Services Laboratory,Illumina 0 1 62 7 1 0 71
Athena Diagnostics Inc 9 2 10 7 15 0 43
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 12 2 1 0 19
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 14 4 0 18
OMIM 15 0 0 0 0 0 15
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 9 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 11 1 0 0 13
Genetic Services Laboratory, University of Chicago 0 0 4 6 0 0 10
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 5 3 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 5 1 0 7
Fulgent Genetics 1 0 5 0 0 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 5 0 0 6
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 2 0 2 0 0 0 4
Baylor Miraca Genetics Laboratories, 2 0 1 0 0 0 3
HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 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
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 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
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 0 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
Broad Institute Rare Disease Group,Broad Institute 0 0 0 0 1 0 1

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