ClinVar Miner

Submissions for variant NM_016835.4(MAPT):c.1747C>G (p.Leu583Val) (rs63750349)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000015336 SCV001140676 pathogenic Frontotemporal dementia 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000015336 SCV000035595 pathogenic Frontotemporal dementia 2003-01-01 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084517 SCV000116653 not provided not provided no assertion provided not provided

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