ClinVar Miner

Variants studied for hereditary spastic paraplegia 39

Included ClinVar conditions (3):
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
68 30 494 601 75 3 1204

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PNPLA6 68 30 485 594 69 3 1183
LOC130063377, PNPLA6 0 0 7 6 0 0 13
MCOLN1, PNPLA6 0 0 1 1 6 0 7
ARHGEF18, MCOLN1, PEX11G, PNPLA6, SAXO5, ZNF358 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
Labcorp Genetics (formerly Invitae), Labcorp 59 22 410 589 64 0 1144
Illumina Laboratory Services, Illumina 0 0 95 10 13 0 118
Genome-Nilou Lab 0 0 0 0 13 0 13
OMIM 5 0 0 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 0 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 1 0 1 1 0 0 3
Paris Brain Institute, Inserm - ICM 3 0 0 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 1 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 2
New York Genome Center 0 0 2 0 0 0 2
3billion, Medical Genetics 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 1 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
GeneReviews 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1

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