ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys) (rs281875357)

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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 RCV000084588 SCV001145223 pathogenic not provided 2019-03-27 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/282830 chr). Predicted to have a damaging effect on the protein. Damaging to protein function(s) relevant to disease mechanism. Statistically associated with disease, but in a single family. (p < 0.05)
OMIM RCV000019771 SCV000040069 pathogenic Alzheimer disease, type 3 2000-10-01 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084588 SCV000116724 not provided not provided no assertion provided not provided

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