ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe) (rs63750577)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000019788 SCV000040387 pathologic Alzheimer disease, type 3 2010-12-23 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000019788 SCV000040086 pathogenic Alzheimer disease, type 3 2007-05-01 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084326 SCV000116462 not provided not provided no assertion provided not provided

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