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 19 455 306 70 1 811

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 19 442 297 70 1 789
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: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 5 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 5 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 2 1 0 0 3
Solve-RD Consortium 0 3 0 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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