ClinVar Miner

Variants studied for hereditary spastic paraplegia 2

Included ClinVar conditions (2):
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 total
52 13 62 80 23 228

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 total
PLP1, RAB9B 38 12 59 80 23 210
PLP1 11 0 3 0 0 14
BEX2, BEX3, MORF4L2, PLP1, RAB40A, RAB9B, TCEAL1, TCEAL3, TCEAL4, TCEAL5, TCEAL7, TCEAL8, TCEAL9, TMEM31 1 0 0 0 0 1
MORF4L2, PLP1, RAB9B, TCEAL1, TCEAL3, TCEAL4, TMEM31, TMSB15B 1 0 0 0 0 1
PLP1, TMEM31 1 0 0 0 0 1
SPAST 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 total
Labcorp Genetics (formerly Invitae), Labcorp 40 7 56 79 22 204
OMIM 5 0 0 0 0 5
Baylor Genetics 0 1 3 0 0 4
MGZ Medical Genetics Center 1 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 1 1 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 1
Paris Brain Institute, Inserm - ICM 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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