ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.50C>T (p.Thr17Met)

gnomAD frequency: 0.00080  dbSNP: rs144611688
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000874605 SCV001016798 likely benign not provided 2018-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000874605 SCV001830510 benign not provided 2020-11-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25174650, 20020531)
Invitae RCV002064770 SCV002438994 likely benign Frontotemporal dementia 2021-10-31 criteria provided, single submitter clinical testing

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