ClinVar Miner

Variants in gene SPAST

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Gene type:
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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
150 48 111 51 13 2 4 349

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Spastic paraplegia 4, autosomal dominant 119 21 47 1 7 0 4 194
not provided 40 25 22 1 2 0 0 86
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 paraparesis 1 1 0 0 0 0 0 2
Spastic paraplegia 2 0 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: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 62 14 42 1 7 0 0 126
Illumina Clinical Services Laboratory,Illumina 0 0 38 33 4 0 0 75
GeneDx 15 15 7 20 4 0 0 61
Athena Diagnostics Inc 29 4 15 0 2 0 0 50
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 34 0 0 0 0 0 0 34
OMIM 19 0 0 0 0 2 0 21
CeGaT Praxis fuer Humangenetik Tuebingen 0 6 5 0 0 0 0 11
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
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Institute of Human Genetics,Klinikum rechts der Isar 3 0 0 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 1 1 0 0 3
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
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
Baylor Miraca Genetics Laboratories, 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,Institute of Human Genetics 0 1 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

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