ClinVar Miner

Submissions for variant NM_000484.4(APP):c.2078A>G (p.Glu693Gly) (rs63751039)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000019725 SCV000040023 pathogenic Alzheimer disease, type 1 2008-04-01 no assertion criteria provided literature only
OMIM RCV000019726 SCV000040024 pathogenic ABeta amyloidosis, Arctic type 2008-04-01 no assertion criteria provided literature only
GeneReviews RCV000020307 SCV000040682 pathologic Alzheimer disease 2010-12-23 no assertion criteria provided curation Converted during submission to Pathogenic.
VIB Department of Molecular Genetics, University of Antwerp RCV000084563 SCV000116699 not provided not provided no assertion provided not provided

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