ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val)

gnomAD frequency: 0.01003  dbSNP: rs1127291
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176288 SCV000227919 benign not specified 2014-07-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000960272 SCV001107233 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000960272 SCV001148353 benign not provided 2024-07-01 criteria provided, single submitter clinical testing LRP5: BP4, BS1, BS2
GeneDx RCV000960272 SCV001849539 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16956801)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277372 SCV002564917 benign Osteogenesis imperfecta 2022-07-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000960272 SCV003800199 benign not provided 2023-09-18 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000960272 SCV001798608 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000960272 SCV001808735 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000960272 SCV001927327 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000960272 SCV001969934 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000176288 SCV001978940 benign not specified no assertion criteria provided clinical testing

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