ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.436A>C (p.Met146Leu) (rs63750306)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000019751 SCV000040386 pathologic Alzheimer disease, type 3 2010-12-23 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000019751 SCV000040049 pathogenic Alzheimer disease, type 3 2010-03-09 no assertion criteria provided literature only

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