ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.54C>T (p.Tyr18=)

gnomAD frequency: 0.00024  dbSNP: rs63750811
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000084499 SCV002545944 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing MAPT: BP4, BP7
Invitae RCV002513905 SCV003510217 likely benign Frontotemporal dementia 2022-10-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003964951 SCV004776694 likely benign MAPT-related condition 2019-08-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
VIB Department of Molecular Genetics, University of Antwerp RCV000084499 SCV000116635 not provided not provided no assertion provided not provided

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