ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg) (rs63750072)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246243 SCV000306676 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000555583 SCV000632350 benign Frontotemporal dementia 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000084502 SCV001758165 benign not provided 2018-08-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29339765)
VIB Department of Molecular Genetics, University of Antwerp RCV000084502 SCV000116638 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000246243 SCV001807354 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000246243 SCV001917300 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000246243 SCV001932332 benign not specified no assertion criteria provided clinical testing

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