ClinVar Miner

Variants studied for Hereditary spastic paraplegia 31

Coded as:
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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
55 20 151 90 31 341

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
REEP1 53 20 148 90 31 336
​intergenic 1 0 1 0 0 2
LOC112841602, LOC122787147, LOC129934249, REEP1 0 0 2 0 0 2
ATOH8, C2orf68, GGCX, GNLY, IMMT, MAT2A, MRPL35, POLR1A, PTCD3, REEP1, RNF181, SFTPB, ST3GAL5, TMEM150A, USP39, VAMP5, VAMP8 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 34 10 108 77 13 242
Illumina Laboratory Services, Illumina 0 1 34 14 18 67
Paris Brain Institute, Inserm - ICM 14 0 2 0 0 16
OMIM 7 0 0 0 0 7
Solve-RD Consortium 1 3 1 0 0 5
Genome-Nilou Lab 0 0 0 0 4 4
Baylor Genetics 0 1 1 0 0 2
Mendelics 0 0 1 0 1 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 1 0 0 0 2
Athena Diagnostics 0 0 0 0 1 1
Hehr Laboratory, Center for Human Genetics Regensburg 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
Neurogenetics Laboratory, Gh Pitie Salpetriere Aphp 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 0 1 0 0 1
Laboratory of Genomics, College of Natural Sciences, Kyungpook National University 1 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 1 0 0 1

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