ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.436A>T (p.Met146Leu)

dbSNP: rs63750306
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247483 SCV002518930 pathogenic Pick disease 2022-05-04 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084310 SCV000116446 not provided not provided no assertion provided not provided

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