ClinVar Miner

Variants in gene APP

See also:
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 protective not provided total
25 11 240 199 76 1 23 502

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Alzheimer disease 13 2 161 154 40 0 4 354
not provided 9 5 43 37 48 0 23 152
not specified 0 0 16 24 9 0 0 48
APP-related disorder 2 0 15 21 0 0 0 38
Inborn genetic diseases 0 0 22 2 0 0 0 24
Alzheimer disease type 1 13 1 2 0 0 0 0 16
Cerebral amyloid angiopathy, APP-related 3 3 6 0 0 0 0 12
Cerebral amyloid angiopathy, APP-related; Alzheimer disease type 1 1 2 5 4 0 0 0 12
Early-onset autosomal dominant Alzheimer disease 0 0 5 2 0 0 0 7
Hereditary cerebral hemorrhage with amyloidosis 0 1 1 0 0 0 0 2
Primary degenerative dementia of the Alzheimer type, presenile onset 0 1 1 0 0 0 0 2
See cases 0 0 2 0 0 0 0 2
ABeta amyloidosis, Arctic type 1 0 0 0 0 0 0 1
ABeta amyloidosis, Iowa type 1 0 0 0 0 0 0 1
ABeta amyloidosis, Italian type 1 0 0 0 0 0 0 1
ABeta amyloidosis, dutch type 1 0 0 0 0 0 0 1
ABetaA21G amyloidosis 1 0 0 0 0 0 0 1
APP POLYMORPHISM 0 0 0 0 1 0 0 1
Alzheimer disease, protection against 0 0 0 0 0 1 0 1
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT 1 0 0 0 0 0 0 1
Early-onset dementia of unclear type 0 0 1 0 0 0 0 1
Familial focal epilepsy with variable foci 0 0 1 0 0 0 0 1
Vascular dementia 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Labcorp Genetics (formerly Invitae), Labcorp 12 2 117 148 35 0 0 314
Illumina Laboratory Services, Illumina 0 0 52 15 11 0 0 78
GeneDx 0 0 9 13 37 0 0 59
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 15 23 1 0 0 44
Athena Diagnostics 4 3 16 2 15 0 0 39
PreventionGenetics, part of Exact Sciences 2 0 15 21 0 0 0 38
Breakthrough Genomics, Breakthrough Genomics 0 0 0 11 27 0 0 38
CeGaT Center for Human Genetics Tuebingen 6 1 9 8 1 0 0 25
Ambry Genetics 0 0 22 2 0 0 0 24
VIB Department of Molecular Genetics, University of Antwerp 0 0 0 0 0 0 23 23
OMIM 18 0 0 0 1 1 0 20
Fulgent Genetics, Fulgent Genetics 1 0 5 4 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 4 4 0 0 8
GeneReviews 0 0 0 0 0 0 4 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 1 0 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 3 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 2 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 1 2 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 0 1
Myllykangas group, University of Helsinki 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 0 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1

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