ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val)

dbSNP: rs63750083
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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 RCV000084412 SCV000843411 uncertain significance not provided 2017-12-29 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002288582 SCV002579440 likely pathogenic Frontotemporal dementia 2021-08-11 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084412 SCV000116548 not provided not provided no assertion provided not provided

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