ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val)

gnomAD frequency: 0.10701  dbSNP: rs3736228
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242123 SCV000308845 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000242123 SCV000331773 benign not specified 2015-07-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712234 SCV000842678 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Mendelics RCV000988589 SCV001138366 benign Osteoporosis with pseudoglioma 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000712234 SCV001729688 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000712234 SCV001862900 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 33302760, 25580429, 30283887, 16355283, 18026682, 16713434, 18455228, 18349089, 17955262, 19571442, 21432225, 18058054, 22511589, 21116122)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278174 SCV002564676 benign Increased bone mineral density 2021-03-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278173 SCV002564901 benign Osteogenesis imperfecta 2022-07-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000712234 SCV005319255 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000712234 SCV001809510 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000242123 SCV001952402 benign not specified no assertion criteria provided clinical testing

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