ClinVar Miner

Variants in gene PSEN2

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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
10 5 158 125 55 13 304

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Alzheimer disease 4 10 1 107 83 32 2 217
not provided 2 3 41 42 35 13 120
Dilated cardiomyopathy 1V 1 0 38 14 14 0 66
not specified 0 0 14 9 17 0 38
PSEN2-related disorder 0 0 8 16 0 0 24
Alzheimer disease 4; Dilated cardiomyopathy 1V 0 0 11 3 0 0 14
Inborn genetic diseases 0 0 12 1 0 0 13
Alzheimer disease 0 0 1 1 1 0 3
Dilated Cardiomyopathy, Dominant 0 0 0 1 0 0 1
Early-onset autosomal dominant Alzheimer disease 0 0 0 1 0 0 1
Huntington disease-like syndrome 0 1 0 0 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
Vascular dementia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3 1 76 85 18 0 183
Illumina Laboratory Services, Illumina 0 0 36 19 19 0 60
GeneDx 1 1 6 14 30 0 52
Breakthrough Genomics, Breakthrough Genomics 0 0 1 16 18 0 35
PreventionGenetics, part of Exact Sciences 0 0 8 17 7 0 32
Athena Diagnostics 1 2 6 5 14 0 28
CeGaT Center for Human Genetics Tuebingen 2 0 11 9 3 0 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 12 5 0 0 18
Ambry Genetics 0 0 12 1 0 0 13
VIB Department of Molecular Genetics, University of Antwerp 0 0 0 0 0 13 13
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 8 3 1 0 12
Fulgent Genetics, Fulgent Genetics 0 0 9 3 0 0 12
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 8 4 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 7 3 0 10
OMIM 9 0 0 0 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 4 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 5 0 8
Genome-Nilou Lab 0 0 0 0 8 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 0 6
AiLife Diagnostics, AiLife Diagnostics 0 0 5 0 0 0 5
Clinical Genetics, Academic Medical Center 0 0 0 0 4 0 4
Mendelics 0 0 1 0 3 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 3 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
GeneReviews 0 0 0 0 0 2 2
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 0 2 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Myllykangas group, University of Helsinki 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Human Genetics Group at Institute of Prion Diseases London, University College London 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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