ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.1141C>G (p.Leu381Val) (rs63750687)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000198517 SCV000255443 pathogenic Alzheimer disease, type 3 2013-11-19 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084397 SCV000116533 not provided not provided no assertion provided not provided

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