ClinVar Miner

Variants in gene SPG7

Minimum submission review status: Collection method:
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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 not provided total
55 38 138 103 53 3 334

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 20 25 59 55 35 0 180
Spastic paraplegia 7 39 15 46 5 8 3 106
not specified 0 0 6 48 33 0 81
Spastic Paraplegia, Recessive 1 0 38 6 2 0 47
Hereditary spastic paraplegia 6 1 2 0 0 0 8
Inborn genetic diseases 3 0 0 0 0 0 3
Dysarthria; Gait ataxia; Cerebral cortical atrophy; Spastic paraparesis 2 0 0 0 0 0 2
Intellectual disability 0 2 0 0 0 0 2
Mitochondrial diseases 2 0 0 0 0 0 2
Seizures; Memory impairment; Gait ataxia; Spastic paraplegia 1 1 0 0 0 0 2
Spastic ataxia; Sensorimotor neuropathy 2 0 0 0 0 0 2
Distal spinal muscular atrophy 0 0 1 0 0 0 1
Optic nerve hypoplasia 0 0 1 0 0 0 1
Polyneuropathy 1 0 0 0 0 0 1
Proximal spinal muscular atrophy 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Spastic paraplegia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 18 15 24 53 46 0 156
Invitae 22 5 41 44 17 0 129
Illumina Clinical Services Laboratory,Illumina 2 0 41 6 2 0 51
Athena Diagnostics Inc 9 1 14 3 10 0 37
CeGaT Praxis fuer Humangenetik Tuebingen 0 6 27 1 0 0 34
PreventionGenetics,PreventionGenetics 0 0 0 5 12 0 17
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 4 5 1 2 0 14
OMIM 12 0 0 0 0 0 12
Genetic Services Laboratory, University of Chicago 4 4 1 2 0 0 11
Neurogenetics of motion laboratory,Montreal Neurological Institute 8 0 0 0 0 0 8
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 4 0 2 0 0 0 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 1 0 0 1 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 4 0 4
Fulgent Genetics,Fulgent Genetics 1 1 2 0 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 1 0 0 2 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 0 0 0 2 0 4
Ambry Genetics 3 0 0 0 0 0 3
Mendelics 1 1 0 0 1 0 3
Institute of Human Genetics,Klinikum rechts der Isar 3 0 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute of Human Genetics,Cologne University 0 0 2 0 0 0 2
Wellcome Centre for Mitochondrial Research,Newcastle University 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 2 0 0 0 0 0 2
Institute of Human Genetics,University of Wuerzburg 1 0 1 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 2 0 0 0 0 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 0 0 2
Raymond Lab,University of Cambridge 0 2 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 1 0 0 0 0 1

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