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
148 59 118 76 21 2 4 392

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 112 29 51 1 3 0 4 192
not provided 47 28 29 28 15 0 1 138
Spastic paraplegia, autosomal dominant 0 0 38 33 4 0 0 75
not specified 0 0 9 20 4 0 0 33
Inborn genetic diseases 1 3 1 0 0 0 0 5
Spastic paraplegia 3 0 0 0 0 0 0 3
Spastic paraparesis 1 1 0 0 0 0 0 2
Spastic paraplegia 4, modifier of 0 0 0 0 0 2 0 2
Hereditary spastic paraplegia 1 0 0 0 0 0 0 1
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: 38
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 79 17 44 21 9 0 0 170
Illumina Clinical Services Laboratory,Illumina 0 0 38 33 4 0 0 75
GeneDx 15 14 8 26 10 0 0 73
Athena Diagnostics Inc 36 6 18 0 2 0 0 62
OMIM 19 0 0 0 0 2 0 21
CeGaT Praxis fuer Humangenetik Tuebingen 0 8 8 0 0 0 0 16
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 1 0 0 0 0 0 6
Ambry Genetics 1 3 1 0 0 0 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 0 2 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 5 0 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 1 1 0 0 3
Baylor Genetics 1 0 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 2 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 2 0 0 0 0 2
TIDEX, University of British Columbia 0 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory,M Health: 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
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 1 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
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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Codex Genetics Limited 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.