ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2446C>A (p.Gln816Lys)

gnomAD frequency: 0.00002  dbSNP: rs63750191
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001857413 SCV002292778 uncertain significance Frontotemporal dementia 2021-10-14 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084555 SCV000116691 not provided not provided no assertion provided not provided

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