ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1091T>C (p.Val364Ala)

gnomAD frequency: 0.14671  dbSNP: rs62063787
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244903 SCV000306679 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001510737 SCV001717845 benign Frontotemporal dementia 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000084505 SCV001937199 benign not provided 2018-08-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23222517)
VIB Department of Molecular Genetics, University of Antwerp RCV000084505 SCV000116641 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000244903 SCV001807553 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000244903 SCV001924464 benign not specified no assertion criteria provided clinical testing

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