ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.117G>A (p.Thr39=)

gnomAD frequency: 0.00154  dbSNP: rs63750529
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001512806 SCV001720281 benign Frontotemporal dementia 2023-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000084500 SCV001813077 likely benign not provided 2020-06-23 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084500 SCV000116636 not provided not provided no assertion provided not provided

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