ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2064T>C (p.Asn688=)

dbSNP: rs63750912
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000015326 SCV001140677 pathogenic Frontotemporal dementia 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000015326 SCV000035585 pathogenic Frontotemporal dementia 2000-12-01 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084525 SCV000116661 not provided not provided no assertion provided not provided

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