ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.830C>T (p.Pro277Leu) (rs63750417)

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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 RCV000254223 SCV000306675 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001510735 SCV001717843 benign Frontotemporal dementia 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000084582 SCV001887671 benign not provided 2018-08-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30679340, 23222517)
VIB Department of Molecular Genetics, University of Antwerp RCV000084582 SCV000116718 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000254223 SCV001808311 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000254223 SCV001918599 benign not specified no assertion criteria provided clinical testing

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