ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.3446T>A (p.Leu1149Gln)

dbSNP: rs200389686
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994676 SCV001148352 likely pathogenic not provided 2016-05-01 criteria provided, single submitter clinical testing
Invitae RCV000994676 SCV001721961 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000994676 SCV001764819 uncertain significance not provided 2022-12-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28378289, 22487062, 25086671)

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