ClinVar Miner

Submissions for variant NM_000484.4(APP):c.2146A>G (p.Ile716Val)

dbSNP: rs63750399
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000084573 SCV001334876 pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing
OMIM RCV000019723 SCV000040021 pathogenic Alzheimer disease type 1 1997-11-01 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084573 SCV000116709 not provided not provided no assertion provided not provided

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