ClinVar Miner

Variants in gene SPG7

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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
93 45 199 118 54 3 449

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary spastic paraplegia 7 79 20 139 44 20 3 278
not provided 29 28 69 44 27 0 186
not specified 0 0 6 48 33 0 81
Hereditary spastic paraplegia 6 1 2 0 0 0 8
Spastic Paraplegia, Recessive 1 0 2 1 0 0 4
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: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 37 10 78 50 17 0 192
GeneDx 18 15 24 53 46 0 156
Illumina Clinical Services Laboratory,Illumina 2 0 63 14 11 0 90
CeGaT Praxis fuer Humangenetik Tuebingen 13 5 36 5 0 0 59
Athena Diagnostics Inc 12 2 14 2 12 0 42
Paris Brain Institute,Inserm - ICM 42 0 0 0 0 0 42
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
Baylor Genetics 4 0 4 0 0 0 8
Neurogenetics of motion laboratory,Montreal Neurological Institute 8 0 0 0 0 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 2 0 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 6 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 3 0 0 0 6
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 3 1 0 0 1 0 5
Fulgent Genetics,Fulgent Genetics 1 1 2 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 0 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
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Clinical Genetics laboratory, University of Goettingen 0 0 2 0 0 0 2
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
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 1 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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 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 Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 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 Fairview: University of Minnesota 0 1 0 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
CMT Laboratory,Bogazici University 0 0 1 0 0 0 1

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