ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe)

dbSNP: rs63750635
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Klinikum rechts der Isar RCV000995804 SCV001150161 pathogenic Frontotemporal dementia 2018-01-22 criteria provided, single submitter clinical testing
OMIM RCV000015331 SCV000035590 pathogenic Pick disease 2002-03-01 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084544 SCV000116680 not provided not provided no assertion provided not provided

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