ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys)

dbSNP: rs63750756
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000015322 SCV000832815 pathogenic Frontotemporal dementia 2021-10-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763404 SCV000894131 pathogenic Frontotemporal dementia; Parkinson disease, late-onset; Progressive supranuclear palsy-parkinsonism syndrome; Pick disease; Progressive supranuclear ophthalmoplegia 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000015322 SCV000035581 pathogenic Frontotemporal dementia 2004-10-01 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084521 SCV000116657 not provided not provided no assertion provided not provided

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