ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.415A>G (p.Met139Val) (rs63751037)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000084304 SCV000843418 pathogenic not provided 2015-12-24 criteria provided, single submitter clinical testing
OMIM RCV000019756 SCV000040054 pathogenic Alzheimer disease, type 3 2003-06-01 no assertion criteria provided literature only
GeneReviews RCV000019756 SCV000040385 pathologic Alzheimer disease, type 3 2010-12-23 no assertion criteria provided curation Converted during submission to Pathogenic.
VIB Department of Molecular Genetics, University of Antwerp RCV000084304 SCV000116440 not provided not provided no assertion provided not provided

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