ClinVar Miner

Variants studied for Alzheimer disease 3

Coded as:
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
41 21 82 18 26 13 190

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PSEN1 41 21 82 18 26 13 190

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 77 18 24 0 119
OMIM 27 0 0 0 0 0 27
GeneReviews 0 0 0 0 0 12 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 6 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 1 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 1 0 0 0 0 5
3billion 1 1 1 0 0 0 3
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara 1 1 0 0 1 0 3
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 2 0 0 0 0 0 2
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Laboratorio de Biología Molecular, FLENI 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Department Of Medical Genetics, Medical University Pleven 0 1 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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