ClinVar Miner

Submissions for variant NM_000484.4(APP):c.2075C>G (p.Ala692Gly) (rs63750671)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000019717 SCV000040015 pathogenic ABetaA21G amyloidosis 2001-05-01 no assertion criteria provided literature only
OMIM RCV000019718 SCV000040016 pathogenic Alzheimer disease, type 1 2001-05-01 no assertion criteria provided literature only
GeneReviews RCV000020306 SCV000040681 pathologic Alzheimer disease 2010-12-23 no assertion criteria provided curation Converted during submission to Pathogenic.
VIB Department of Molecular Genetics, University of Antwerp RCV000084561 SCV000116697 not provided not provided no assertion provided not provided

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