ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2185G>A (p.Val729Met)

dbSNP: rs63750570
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000015321 SCV001201306 pathogenic Frontotemporal dementia 2021-09-01 criteria provided, single submitter clinical testing
OMIM RCV000015321 SCV000035580 pathogenic Frontotemporal dementia 2001-03-01 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084548 SCV000116684 not provided not provided no assertion provided not provided

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