ClinVar Miner

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

dbSNP: 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 not provided Alzheimer disease no assertion provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084561 SCV000116697 not provided not provided no assertion provided not provided

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