ClinVar Miner

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

dbSNP: rs63750912
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Total submissions: 4
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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
PerkinElmer Genomics RCV000084525 SCV002022755 likely pathogenic not provided 2020-04-10 no assertion criteria provided clinical testing

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