ClinVar Miner

Variants studied for Hereditary spastic paraplegia 35

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 total
23 28 58 10 18 128

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FA2H 16 20 48 10 17 104
FA2H, LOC130059394 6 7 9 0 1 21
FA2H, LOC130059393 0 0 1 0 0 1
FA2H, LOC130059393, LOC130059394, LOC130059395, LOC130059396 0 1 0 0 0 1
FA2H, LOC132090400 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 40 9 18 67
OMIM 8 0 0 0 0 8
Fulgent Genetics, Fulgent Genetics 0 6 1 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 4 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 4 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 2 3 0 0 6
Revvity Omics, Revvity 0 4 1 0 0 5
Mendelics 2 2 0 0 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 3 4
Paris Brain Institute, Inserm - ICM 4 0 0 0 0 4
Genomics England Pilot Project, Genomics England 0 4 0 0 0 4
Baylor Genetics 0 0 3 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 3 3
Genome-Nilou Lab 1 0 0 0 2 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 1 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 2 0 0 0 2
3billion, Medical Genetics 1 0 1 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 1
Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital 0 1 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 1 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 1

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