ClinVar Miner

Submissions for variant NM_000021.3(PSEN1):c.799C>T (p.Pro267Ser) (rs63751229)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000084371 SCV000614828 likely pathogenic not provided 2016-11-02 criteria provided, single submitter clinical testing
OMIM RCV000019762 SCV000040060 pathogenic Alzheimer disease, type 3 1995-10-01 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084371 SCV000116507 not provided not provided no assertion provided not provided

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