ClinVar Miner

Variants studied for Hereditary spastic paraplegia 3A

Coded as:
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 not provided total
57 37 247 150 39 10 497

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATL1 57 37 238 144 38 10 481
ATL1, MAP4K5 0 0 7 6 1 0 14
BICD2 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 35
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 39 20 196 148 26 0 429
Illumina Laboratory Services, Illumina 0 1 19 6 17 0 43
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 29 0 0 0 29
Genome-Nilou Lab 0 0 0 0 24 0 24
Paris Brain Institute, Inserm - ICM 15 0 0 0 0 0 15
GeneReviews 2 0 0 0 0 10 12
OMIM 11 0 0 0 0 0 11
Mendelics 3 4 0 0 0 0 7
3billion 0 2 3 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 3 1 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 2 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 3 0 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 1
Fetal and Placental Pathology Unit, Hospital Habib Bougatfa 0 1 0 0 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.