ClinVar Miner

Variants in gene SPAST

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 risk factor not provided total
334 88 193 65 44 2 4 669

Condition and significance breakdown #

Total conditions: 11
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Spastic paraplegia 4, autosomal dominant 269 47 143 28 34 0 4 494
not provided 91 41 37 20 10 0 1 193
not specified 0 0 10 20 4 0 0 34
Spastic paraplegia 3 0 14 0 0 0 0 17
Spastic paraplegia, autosomal dominant 0 0 8 4 1 0 0 13
Inborn genetic diseases 2 4 0 0 0 0 0 6
Hereditary spastic paraplegia 2 0 0 0 0 0 0 2
Spastic paraparesis 1 1 0 0 0 0 0 2
Spastic paraplegia 4, modifier of 0 0 0 0 0 2 0 2
Seizures; Fatigue; Abnormal myelination 1 0 0 0 0 0 0 1
Spasticity; Flexion contracture; Spastic diplegia; Tip-toe gait; Pes valgus 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 152 29 83 28 9 0 0 301
Paris Brain Institute,Inserm - ICM 102 0 14 0 0 0 0 116
Illumina Clinical Services Laboratory,Illumina 0 0 61 15 31 0 0 107
Athena Diagnostics Inc 43 9 22 0 3 0 0 77
GeneDx 18 14 8 26 10 0 0 76
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 34 7 0 0 0 0 0 41
CeGaT Praxis fuer Humangenetik Tuebingen 15 12 12 0 0 0 0 39
OMIM 19 0 0 0 0 2 0 21
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 14 0 0 0 0 0 0 14
Centre for Mendelian Genomics,University Medical Centre Ljubljana 7 1 4 0 1 0 0 13
Mendelics 6 3 2 0 1 0 0 12
Institute of Human Genetics, Klinikum rechts der Isar 6 1 0 0 0 0 0 7
Ambry Genetics 2 4 0 0 0 0 0 6
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 0 2 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 2 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Baylor Genetics 1 0 2 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 1 1 0 0 3
Neurogenetics Laboratory,GH Pitie Salpetriere APHP 0 3 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 2 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 1 0 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 1 0 0 0 2
GeneReviews 2 0 0 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 1 0 0 0 2
TIDEX, University of British Columbia 0 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 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 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 1 0 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 1 0 0 0 0 0 0 1
Codex Genetics Limited 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
National Institute of Neuroscience,National Center of Neurology and Psychiatry 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 1 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.