ClinVar Miner

Variants studied for Hereditary spastic paraplegia 4

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 risk factor not provided total
412 99 301 181 50 1 11 989

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
SPAST 403 95 300 181 50 1 11 975
LOC129933455, SPAST 5 1 0 0 0 0 0 6
BIRC6, NLRC4, SLC30A6, SPAST, TTC27, YIPF4 1 1 0 0 0 0 0 2
LOC129933454, LOC129933455, SPAST 2 0 0 0 0 0 0 2
BIRC6, LTBP1, NLRC4, SLC30A6, SPAST, TTC27, YIPF4 1 0 0 0 0 0 0 1
BIRC6, NLRC4, SLC30A6, SPAST, YIPF4 1 0 0 0 0 0 0 1
COL3A1 0 1 0 0 0 0 0 1
DPY30, LOC129933452, LOC129933453, LOC129933454, LOC129933455, SPAST 1 0 0 0 0 0 0 1
DPY30, MEMO1, NLRC4, SLC30A6, SPAST, SRD5A2, XDH 0 0 1 0 0 0 0 1
FGG 1 0 0 0 0 0 0 1
GNAS 1 0 0 0 0 0 0 1
LOC129388840, LOC129933456, NLRC4, SLC30A6, SLC30A6-DT, SPAST 1 0 0 0 0 0 0 1
LOC129388840, LOC129933456, SLC30A6, SLC30A6-DT, SPAST 1 0 0 0 0 0 0 1
OFD1, TRAPPC2 1 0 0 0 0 0 0 1
PHF6 1 0 0 0 0 0 0 1
SLC30A6, SLC30A6-DT, SPAST 1 0 0 0 0 0 0 1
SLC30A6-DT, SPAST 1 0 0 0 0 0 0 1
TCF4 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 74
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 286 36 228 169 23 0 0 742
Paris Brain Institute, Inserm - ICM 102 0 0 0 0 0 0 102
Illumina Laboratory Services, Illumina 0 0 53 11 30 0 0 94
OMIM 19 0 0 0 0 0 0 19
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 16 0 0 0 0 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 1 3 0 0 0 0 15
Mendelics 8 3 2 0 1 0 0 14
MGZ Medical Genetics Center 2 6 4 0 0 0 0 12
Revvity Omics, Revvity 0 3 8 0 0 0 0 11
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 3 0 0 0 1 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 3 0 0 0 0 0 8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 7 1 0 0 0 0 0 8
3billion 4 2 2 0 0 0 0 8
Molecular Genetics, Royal Melbourne Hospital 3 4 1 0 0 0 0 8
Fulgent Genetics, Fulgent Genetics 0 3 1 3 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 4 0 1 0 0 7
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 7 7
Baylor Genetics 2 0 3 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 2 0 0 0 0 0 5
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 4 1 0 0 0 0 0 5
Neurogenetics Laboratory, GH Pitie Salpetriere APHP 0 4 0 0 0 0 0 4
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 3 1 0 0 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 2 1 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 2 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 1 1 0 0 0 0 3
DASA 1 2 0 0 0 0 0 3
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 3 0 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 0 0 0 2
GeneReviews 0 0 0 0 0 0 2 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 1 0 0 0 2
TIDEX, University of British Columbia 0 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 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
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 1 0 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 1 1 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 0 1
Codex Genetics Limited 1 0 0 0 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Vanderbilt University Medical Center 0 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Suma Genomics 0 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 1 0 0 0 0 0 0 1
Department of Neurology, Affiliated Hospital of Jining Medical University 1 0 0 0 0 0 0 1
Human Genetics, University of Luebeck 1 0 0 0 0 0 0 1
Uffe Birk Jensen Lab, Aarhus University Hospital 0 1 0 0 0 0 0 1

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