ClinVar Miner

Variants studied for hereditary spastic paraplegia 31

Included ClinVar conditions (2):
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 total
51 18 144 82 31 319

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
REEP1 49 18 141 82 31 314
​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: 25
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 30 10 101 69 13 223
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
Genome-Nilou Lab 0 0 0 0 4 4
Solve-RD Consortium 0 3 0 0 0 3
Baylor Genetics 0 1 1 0 0 2
Mendelics 0 0 1 0 1 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
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
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
Breda Genetics srl 0 0 1 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
Suma Genomics, Suma Genomics 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.