ClinVar Miner

Variants studied for Hereditary spastic paraplegia 39

Coded as:
Minimum submission review status: Collection method:
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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
63 24 500 539 75 1 1142

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 63 24 491 533 69 1 1121
LOC130063377, PNPLA6 0 0 7 6 0 0 13
MCOLN1, PNPLA6 0 0 1 0 6 0 7
ARHGEF18, MCOLN1, PEX11G, PNPLA6, SAXO5, ZNF358 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 54 19 417 528 64 0 1082
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
Paris Brain Institute, Inserm - ICM 3 0 0 0 0 0 3
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
3billion 0 2 0 0 0 0 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
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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