ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.2241G>A (p.Leu747=)

gnomAD frequency: 0.00001  dbSNP: rs867927445
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733951 SCV000862057 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000733951 SCV001703362 likely benign not provided 2024-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000733951 SCV002578341 uncertain significance not provided 2022-04-04 criteria provided, single submitter clinical testing Reported with a second variant in an unknown phase in a patient with a history of long bone fractures (Saarinen et al., 2010); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 20045498)

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