ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1564T>C (p.Ser522Pro)

gnomAD frequency: 0.12766  dbSNP: rs10445337
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251494 SCV000306666 benign not specified criteria provided, single submitter clinical testing
Mendelics RCV000989935 SCV001140674 benign Frontotemporal dementia 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000989935 SCV001717847 benign Frontotemporal dementia 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000084508 SCV001898167 benign not provided 2018-08-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30389748, 23222517)
VIB Department of Molecular Genetics, University of Antwerp RCV000084508 SCV000116644 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000251494 SCV001806964 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000251494 SCV001925061 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000251494 SCV001955378 benign not specified no assertion criteria provided clinical testing

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