ClinVar Miner

Variants studied for Hereditary spastic paraplegia 48

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
30 15 455 306 70 1 808

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AP5Z1 30 15 444 297 70 1 788
AP5Z1, LOC129997864 0 0 6 4 0 0 10
AP5Z1, LOC129997861 0 0 3 5 0 0 8
AP5Z1, LOC129997864, LOC129997865, MIR4656 0 0 1 0 0 0 1
AP5Z1, LOC129997865 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 19 10 257 258 62 0 606
Illumina Laboratory Services, Illumina 0 0 213 46 21 0 280
Baylor Genetics 2 1 11 0 0 0 14
Revvity Omics, Revvity 2 1 9 0 0 0 12
OMIM 6 0 0 0 0 0 6
Paris Brain Institute, Inserm - ICM 5 0 0 1 0 0 6
Genome-Nilou Lab 0 0 0 0 5 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 5 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 2 1 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 1 0 0 0 0 1
CMT Laboratory, Bogazici University 0 0 1 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.