ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1546T>C (p.Tyr516His) (rs2258689)

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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 RCV000246568 SCV000306665 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001514001 SCV001721729 benign Frontotemporal dementia 2020-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000084507 SCV001887882 benign not provided 2018-08-10 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084507 SCV000116643 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000246568 SCV001807110 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000246568 SCV001923771 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000246568 SCV001931704 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000246568 SCV001951357 benign not specified no assertion criteria provided clinical testing

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