ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.548G>T (p.Gly183Val) (rs63751068)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000019779 SCV000040077 pathogenic Pick's disease 2018-02-14 no assertion criteria provided literature only
GeneReviews RCV000020085 SCV000040388 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 RCV000084335 SCV000116471 not provided not provided no assertion provided not provided

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