ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1505C>T (p.Ser502Phe)

gnomAD frequency: 0.00169  dbSNP: rs143956882
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000989934 SCV000632351 likely benign Frontotemporal dementia 2021-02-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000585116 SCV000692912 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing
Mendelics RCV000989934 SCV001140673 likely benign Frontotemporal dementia 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000585116 SCV001858304 benign not provided 2019-12-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27094865, 29887346, 27776828, 22312439, 30363439, 25937274)

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