ClinVar Miner

Variants studied for Hereditary spastic paraplegia 7

Coded as:
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
142 73 328 232 39 10 731

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SPG7 131 70 295 219 38 10 672
LOC130059818, SPG7 9 2 33 13 1 0 56
ANKRD11, SPG7 1 0 0 0 0 0 1
LOC130059818, LOC130059819, LOC130059820, LOC130059821, SPG7 1 0 0 0 0 0 1
LOC130059818, LOC130059819, SPG7 1 0 0 0 0 0 1
LOC130059820, LOC130059821, SPG7 1 0 0 0 0 0 1
MUTYH 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 82 16 237 218 32 0 585
Illumina Laboratory Services, Illumina 1 0 61 13 11 0 86
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 33 21 12 0 0 0 66
Paris Brain Institute, Inserm - ICM 42 0 0 0 0 0 42
Fulgent Genetics, Fulgent Genetics 10 3 6 2 0 0 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 3 0 0 0 0 20
Revvity Omics, Revvity 4 4 10 0 0 0 18
Solve-RD Consortium 0 16 0 0 0 0 16
OMIM 13 0 0 0 0 0 13
MGZ Medical Genetics Center 3 5 5 0 0 0 13
3billion 7 2 2 0 0 0 11
Genome-Nilou Lab 0 0 0 0 9 0 9
Genomics England Pilot Project, Genomics England 6 3 0 0 0 0 9
Genetic Services Laboratory, University of Chicago 4 4 0 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 0 0 6 0 8
Neurogenetics of motion laboratory, Montreal Neurological Institute 8 0 0 0 0 0 8
Baylor Genetics 4 0 3 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 1 3 0 0 0 7
Mendelics 4 1 0 0 1 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 1 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 0 0 0 0 0 6
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 5 1 0 0 0 0 6
GeneReviews 0 0 0 0 0 5 5
Molecular Genetics, Royal Melbourne Hospital 3 0 1 0 1 0 5
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 3 2 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 3 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 0 0 2 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 1 2 0 0 0 4
Athena Diagnostics 0 0 0 0 3 0 3
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 3 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 2 0 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 2 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Institute of Human Genetics, University of Goettingen 0 0 2 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 for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 0 0 0 0 2
DASA 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 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
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
CMT Laboratory, Bogazici University 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 1 0 0 0 0 0 1

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