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
66 34 147 51 32 141 364

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 16 18 13 7 4 141 174
Alzheimer disease, type 3 38 7 78 18 24 0 163
Cardiomyopathy, dilated, 1u 1 0 93 21 5 0 120
Alzheimer disease, type 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 19 5 28 5 5 0 62
Alzheimer disease 1 5 1 0 1 0 8
Dilated Cardiomyopathy, Dominant 0 0 7 1 0 0 8
Early-onset autosomal dominant Alzheimer disease 0 0 7 1 0 0 8
not specified 0 0 4 1 3 0 8
Frontotemporal dementia 2 3 0 0 0 0 5
Alzheimer disease, familial, with spastic paraparesis and unusual plaques 3 0 0 0 0 0 3
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
Alzheimer disease, type 3; Frontotemporal dementia; Pick disease; Cardiomyopathy, dilated, 1u; Acne inversa, familial, 3 0 2 0 0 0 0 2
Alzheimer disease, type 4 2 0 0 0 0 0 2
Mental deterioration; Dementia 1 1 0 0 0 0 2
Acne inversa, familial, 3 1 0 0 0 0 0 1
Alzheimer disease familial 3, with spastic paraparesis 1 0 0 0 0 0 1
Alzheimer disease, type 3; Frontotemporal dementia 0 0 1 0 0 0 1
Alzheimer disease, type 3; Spastic paraparesis 1 0 0 0 0 0 1
Early onset Alzheimer disease with behavioral disturbance 0 1 0 0 0 0 1
Frontotemporal dementia; Primary degenerative dementia of the Alzheimer type, presenile onset 0 0 1 0 0 0 1
Pick disease 1 0 0 0 0 0 1
Primary dilated cardiomyopathy; Heart failure 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
VIB Department of Molecular Genetics, University of Antwerp 0 0 0 0 0 141 141
Illumina Clinical Services Laboratory,Illumina 0 0 102 40 25 0 127
Invitae 19 5 28 11 7 0 70
OMIM 39 0 0 0 0 0 39
Athena Diagnostics Inc 11 12 12 1 2 0 38
GeneReviews 14 0 0 0 0 0 14
CeGaT Praxis fuer Humangenetik Tuebingen 7 3 2 0 0 0 12
Human Genetics Group at Institute of Prion Diseases London,University College London 1 7 0 0 0 0 8
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 3 0 2 0 5
PreventionGenetics, PreventionGenetics 0 0 0 1 2 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 0 1 0 3
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
GeneDx 0 2 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Codex Genetics Limited 1 1 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
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 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
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
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
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Department of Psychiatry and Medical Psychology,Medical University Pleven 0 1 0 0 0 0 1

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