ClinVar Miner

Variants studied for hereditary spastic paraplegia 11

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 affects not provided total
430 158 1251 1382 70 1 96 3148

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
SPG11 412 155 1221 1349 70 1 93 3064
LOC130056973, SPG11 7 1 17 26 0 0 2 52
LOC130056971, SPG11 5 0 10 7 0 0 1 21
​intergenic 4 0 0 0 0 0 0 4
LOC130056974, SPG11 0 1 1 0 0 0 0 2
AGXT, KIF1A, MAB21L4 0 1 0 0 0 0 0 1
B2M, PATL2, SPG11, TRIM69 0 0 1 0 0 0 0 1
EIF3J, SPG11 0 0 1 0 0 0 0 1
LOC130056972, LOC130056973, SPG11 1 0 0 0 0 0 0 1
PATL2, SPG11 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Labcorp Genetics (formerly Invitae), Labcorp 369 55 1114 1353 68 0 0 2959
Genome-Nilou Lab 54 17 151 30 8 0 0 260
Illumina Laboratory Services, Illumina 0 1 127 12 12 0 0 152
Fulgent Genetics, Fulgent Genetics 31 60 15 3 2 0 0 111
GeneReviews 15 0 0 0 0 0 83 98
Paris Brain Institute, Inserm - ICM 34 0 0 0 0 0 0 34
Neuberg Centre For Genomic Medicine, NCGM 8 7 11 0 0 0 0 26
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 13 4 0 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 3 7 0 0 0 0 16
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 13 13
OMIM 12 0 0 0 0 0 0 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 8 0 0 12
Mendelics 9 0 0 1 1 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 4 0 0 0 0 9
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 6 1 0 0 1 0 0 8
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 7 1 0 0 0 0 0 8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 1 0 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 3 0 0 6
3billion, Medical Genetics 4 1 1 0 0 0 0 6
Baylor Genetics 4 0 1 0 0 0 0 5
Athena Diagnostics 0 0 0 0 5 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 3 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 1 2 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 4 0 1 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 3 0 0 0 4
Genomics England Pilot Project, Genomics England 0 4 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 0 3 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 2 0 0 0 0 3
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 2 0 1 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 2 0 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
Department of Biochemistry, Faculty of Medicine, University of Khartoum 2 0 0 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 0 0 0 2
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 2 0 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 0 2
Department of Neurology, The Affiliated Hospital of Zunyi Medical University 2 0 0 0 0 0 0 2
Next Generation Genetic Polyclinic 0 1 1 0 0 0 0 2
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 0 1
Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong 1 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 0 1
Yunnan Provincial Key Laboratory of Clinical Virology, Institution of Basic and Clinical Medicine of Yunnan Province, The First People's Hospital of Yunnan Province 0 0 0 0 0 1 0 1
DASA 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 1 0 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 1
Razi Pathobiology & Medical Genetics 1 0 0 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 0 0 1

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