ClinVar Miner

Variants studied for Alzheimer disease 3

Included ClinVar conditions (5):
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 total
48 14 104 23 27 207

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 total
PSEN1 48 14 104 23 27 207

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 77 18 24 119
Invitae 19 5 28 5 5 62
OMIM 27 0 0 0 0 27
GeneReviews 12 0 0 0 0 12
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 2
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases,University of Belgrade, School of Medicine 2 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Laboratorio de Biología Molecular,FLENI 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
Codex Genetics Limited 1 0 0 0 0 1
Department of Psychiatry and Medical Psychology,Medical University Pleven 0 1 0 0 0 1

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