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 affects association not provided total
247 49 771 265 47 1 1 2 1275

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects association not provided total
Spastic paraplegia 11, autosomal recessive 217 31 730 200 43 1 0 2 1156
not provided 49 17 60 89 7 0 0 0 214
not specified 0 0 10 32 24 0 0 0 58
Amyotrophic lateral sclerosis type 5 12 1 9 0 0 0 0 0 22
Charcot-Marie-Tooth disease, axonal type 2X 8 0 1 0 0 0 0 0 9
Amyotrophic lateral sclerosis 0 0 8 0 0 0 0 0 8
Amyotrophic lateral sclerosis type 5; Spastic paraplegia 11, autosomal recessive; Charcot-Marie-Tooth disease, axonal type 2X 1 1 5 0 0 0 0 0 7
Hereditary spastic paraplegia 3 0 2 0 0 0 0 0 5
Inborn genetic diseases 4 0 1 0 0 0 0 0 5
Spastic Paraplegia, Recessive 0 0 3 1 0 0 0 0 4
Intellectual disability 0 0 3 0 0 0 0 0 3
Amyotrophic lateral sclerosis type 5; Spastic paraplegia 11, autosomal recessive 1 0 1 0 0 0 0 0 2
Gait disturbance; Spastic paraparesis; Difficulty walking; Generalized hyperreflexia 0 2 0 0 0 0 0 0 2
SPG11-related spastic paraplegia 2 0 0 0 0 0 0 0 2
Spastic paraplegia 1 1 0 0 0 0 0 0 2
Abnormality of brain morphology 0 1 0 0 0 0 0 0 1
Autism spectrum disorder 0 0 0 0 0 0 1 0 1
Spastic paraplegia 11, autosomal recessive; Charcot-Marie-Tooth disease, axonal type 2X 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association not provided total
Invitae 124 19 627 219 39 0 0 0 1028
Illumina Clinical Services Laboratory,Illumina 2 1 129 13 12 0 0 0 157
GeneReviews 97 0 0 0 0 0 0 0 97
GeneDx 23 11 9 27 19 0 0 0 89
Athena Diagnostics Inc 9 3 19 6 21 0 0 0 58
CeGaT Praxis fuer Humangenetik Tuebingen 8 3 28 5 0 0 0 0 44
Paris Brain Institute,Inserm - ICM 32 0 0 0 0 0 0 0 32
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 12 2 1 0 0 0 19
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 14 4 0 0 0 18
Baylor Genetics 6 0 11 0 0 0 0 0 17
OMIM 15 0 0 0 0 0 0 0 15
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 9 0 0 0 13
Mendelics 9 0 0 1 1 0 0 0 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 11 0 0 0 0 0 0 0 11
Genetic Services Laboratory, University of Chicago 0 0 3 7 0 0 0 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 4 4 0 0 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 5 3 0 0 0 8
ALS/MND Lab,University of Malta 0 0 8 0 0 0 0 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 5 1 0 0 0 7
Fulgent Genetics,Fulgent Genetics 1 0 5 0 0 0 0 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 5 0 0 0 0 6
Ambry Genetics 4 0 1 0 0 0 0 0 5
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 2 0 2 0 0 0 0 0 4
Broad Institute Rare Disease Group, Broad Institute 2 1 0 0 1 0 0 0 4
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 3 1 0 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 0 3 0 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 3 0 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 0 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 2 0 0 0 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 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 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 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 0 0 0 1 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 0 0 0 1
Department of Hematologic Diagnostics and Genetics,Jagiellonian University Hospital in Krakow 0 1 0 0 0 0 0 0 1
Yunnan Provincial Key Laboratory of Clinical Virology, Institution of Basic and Clinical Medicine of Yunnan Province,The First People's Hospital of Yunnan Province 0 0 0 0 0 1 0 0 1

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