ClinVar Miner

Variants studied for hereditary spastic paraplegia 54

Included ClinVar conditions (1):
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
26 9 102 87 12 231

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DDHD2 26 9 100 87 12 229
ADAM9, ADGRA2, ADRB3, ASH2L, BAG4, BRF2, DDHD2, EIF4EBP1, ERLIN2, FGFR1, GOT1L1, HTRA4, LETM2, LINC03042, LSM1, NSD3, PLEKHA2, PLPBP, PLPP5, RAB11FIP1, STAR, TACC1, TM2D2 0 0 1 0 0 1
ADAM9, DDHD2, FGFR1, HTRA4, LETM2, LINC03042, NSD3, PLEKHA2, PLPP5, TACC1, TM2D2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 13 3 98 87 12 213
OMIM 8 0 0 0 0 8
Paris Brain Institute, Inserm - ICM 6 0 0 0 0 6
Baylor Genetics 1 0 2 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 0 3
MVZ Medizinische Genetik Mainz 1 0 2 0 0 3
Revvity Omics, Revvity 0 1 1 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 1 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

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