ClinVar Miner

Variants in gene PSEN1

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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 not provided total
109 67 242 122 57 146 559

Condition and significance breakdown #

Total conditions: 31
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 31 24 29 26 29 141 238
Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 59 13 83 60 13 0 228
Alzheimer disease 3 44 23 85 18 26 13 197
Dilated cardiomyopathy 1U 1 0 93 21 6 0 121
not specified 0 0 22 10 6 0 37
PSEN1-related disorder 2 2 10 14 0 0 28
Inborn genetic diseases 0 0 10 2 0 0 12
Alzheimer disease 2 5 1 0 1 0 9
Alzheimer disease 3; Frontotemporal dementia; Pick disease; Dilated cardiomyopathy 1U; Acne inversa, familial, 3 3 2 4 0 0 0 9
Early-onset autosomal dominant Alzheimer disease 1 0 7 1 0 0 9
Dilated Cardiomyopathy, Dominant 0 0 7 1 0 0 8
Frontotemporal dementia 2 4 1 0 1 0 8
Pick disease 3 0 0 0 1 0 4
Alzheimer disease, familial, with spastic paraparesis and unusual plaques 3 0 0 0 0 0 3
Acne inversa, familial, 3 1 0 0 0 1 0 2
Alzheimer disease 4 1 0 0 0 0 1 2
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia 2 0 0 0 0 0 2
Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques 2 0 0 0 0 0 2
Alzheimer disease, familial, 3, with unusual plaques 2 0 0 0 0 0 2
Mental deterioration; Dementia 1 1 0 0 0 0 2
Abnormality of the nervous system 1 0 0 0 0 0 1
Alzheimer disease 3; Frontotemporal dementia 0 0 1 0 0 0 1
Alzheimer disease 3; Spastic paraparesis 1 0 0 0 0 0 1
Alzheimer disease familial 3, with spastic paraparesis 1 0 0 0 0 0 1
Dementia 1 0 0 0 0 0 1
Early onset Alzheimer disease with behavioral disturbance 0 1 0 0 0 0 1
Familial Alzheimer disease 1 0 0 0 0 0 1
Frontotemporal dementia; Primary degenerative dementia of the Alzheimer type, presenile onset 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Heart failure 0 0 1 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 0 1 0 0 0 0 1
Visual hallucination; Auditory hallucination; Dementia 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 59 13 83 61 13 0 229
VIB Department of Molecular Genetics, University of Antwerp 0 0 0 0 0 141 141
Illumina Laboratory Services, Illumina 0 0 102 40 25 0 127
Athena Diagnostics 18 14 15 2 4 0 53
GeneDx 6 4 9 5 20 0 44
OMIM 39 0 0 0 0 0 39
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 7 18 8 0 0 39
CeGaT Center for Human Genetics Tuebingen 10 4 4 8 7 0 33
PreventionGenetics, part of Exact Sciences 2 2 10 15 2 0 31
Breakthrough Genomics, Breakthrough Genomics 0 0 1 10 9 0 20
GeneReviews 1 0 0 0 0 13 14
Ambry Genetics 0 0 10 2 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 2 2 0 2 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 3 1 0 0 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 1 0 0 0 0 8
Human Genetics Group at Institute of Prion Diseases London, University College London 1 7 0 0 0 0 8
Fulgent Genetics, Fulgent Genetics 3 2 2 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 0 2 2 0 6
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 3 0 2 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 1 0 0 0 0 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 2 2 0 5
3billion 1 2 2 0 0 0 5
MGZ Medical Genetics Center 1 2 1 0 0 0 4
Revvity Omics, Revvity 3 0 0 0 0 0 3
Mendelics 3 0 0 0 0 0 3
Eurofins Ntd Llc (ga) 0 0 2 0 1 0 3
Mayo Clinic Laboratories, Mayo Clinic 3 0 0 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 1 0 3
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara 1 1 0 0 1 0 3
Molecular Genetics, Royal Melbourne Hospital 2 1 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Codex Genetics Limited 1 1 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
Baylor Genetics 1 0 0 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 1 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 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
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 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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