ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1738G>A (p.Val580Ile)

gnomAD frequency: 0.00024  dbSNP: rs149524398
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001043932 SCV001207703 likely benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001043932 SCV001994600 uncertain significance not provided 2024-10-24 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276599 SCV002564869 uncertain significance Osteogenesis imperfecta 2019-03-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001043932 SCV005437056 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing LRP5: BP5

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