ClinVar Miner

Variants studied for Hereditary spastic paraplegia 48

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 not provided total
30 16 455 306 70 1 809

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AP5Z1 30 16 442 297 70 1 787
AP5Z1, LOC129997864 0 0 6 4 0 0 10
AP5Z1, LOC129997861 0 0 3 5 0 0 8
AP5Z1, MIR4656 0 0 2 0 0 0 2
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: 21
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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
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 2 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 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

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