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
49 33 112 61 35 3 244

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Spastic paraplegia 7 36 14 32 10 16 3 102
not provided 19 22 42 2 8 0 85
not specified 0 0 6 48 33 0 81
Spastic Paraplegia, Recessive 1 0 38 6 2 0 47
Hereditary spastic paraplegia 4 0 2 0 0 0 6
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
Mitochondrial diseases 2 0 0 0 0 0 2
Seizures; Memory impairment; Gait ataxia; Spastic paraplegia 1 1 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
Proximal spinal muscular atrophy 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 17 15 24 39 28 0 123
Invitae 20 5 28 10 12 0 75
Illumina Clinical Services Laboratory,Illumina 2 0 41 6 2 0 51
Athena Diagnostics Inc 9 1 9 3 10 0 32
PreventionGenetics 0 0 0 5 12 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 15 0 0 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
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 0 0 0 3
Ambry Genetics 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
Undiagnosed Diseases Network,NIH 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 1
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
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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