ClinVar Miner

Variants studied for Autosomal recessive spastic paraplegia type 76

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 total
21 5 8 0 7 40

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
CAPN1 20 5 8 4 36
CAPN1, LOC126861236 1 0 0 3 4

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance benign total
Paris Brain Institute, Inserm - ICM 13 0 0 0 13
Genome-Nilou Lab 0 0 0 7 7
OMIM 4 0 0 0 4
Revvity Omics, Revvity 0 2 2 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 3
3billion 1 1 1 0 3
Baylor Genetics 0 1 1 0 2
Mendelics 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 2
Undiagnosed Diseases Network, NIH 0 1 1 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 1 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 1 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 1
Department of Neurology, The Third Xiangya Hospital, Central South University 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 1

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