ClinVar Miner

Submissions for variant NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) (rs63749851)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000084260 SCV000614833 likely pathogenic not provided 2017-05-03 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000084260 SCV001250072 pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing
OMIM RCV000009397 SCV000029615 pathogenic Alzheimer disease, type 4 2000-01-01 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084260 SCV000116396 not provided not provided no assertion provided not provided

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