ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.265G>T (p.Val89Leu) (rs63750815)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000020083 SCV000040383 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 RCV000084285 SCV000116421 not provided not provided no assertion provided not provided

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