ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1178C>T (p.Ser393Leu) (rs73314997)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000249877 SCV000306680 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001517496 SCV001726006 benign Frontotemporal dementia 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV001580035 SCV001949094 benign not provided 2018-07-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23990795, 27884173)
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580035 SCV001809439 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000249877 SCV001923687 benign not specified no assertion criteria provided clinical testing

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