ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2074G>A (p.Val692Ile)

gnomAD frequency: 0.00116  dbSNP: rs116733906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001680629 SCV001898340 benign not provided 2019-08-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24018212, 20020531)
Labcorp Genetics (formerly Invitae), Labcorp RCV002073198 SCV002471993 likely benign Frontotemporal dementia 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496003 SCV002799032 likely benign Frontotemporal dementia; Parkinson disease, late-onset; Progressive supranuclear palsy-parkinsonism syndrome; Pick disease; Supranuclear palsy, progressive, 1 2021-12-07 criteria provided, single submitter clinical testing

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