ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1999G>A (p.Val667Met)

gnomAD frequency: 0.03472  dbSNP: rs4988321
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250939 SCV000308838 likely benign not specified criteria provided, single submitter clinical testing
Mendelics RCV000006654 SCV001138364 likely benign Osteoporosis with pseudoglioma 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000086953 SCV001144464 benign not provided 2018-12-06 criteria provided, single submitter clinical testing
Invitae RCV000086953 SCV001731472 benign not provided 2021-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000086953 SCV001756828 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30283887, 28222408, 15077203, 18026682, 18349089, 22025579, 18058054, 11719191, 17307038, 22511589, 21116122)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276536 SCV002564674 benign Increased bone mineral density 2021-03-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276535 SCV002564871 benign Osteogenesis imperfecta 2022-07-18 criteria provided, single submitter clinical testing
OMIM RCV000006654 SCV000026837 pathogenic Osteoporosis with pseudoglioma 2001-11-16 no assertion criteria provided literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000006654 SCV000052808 not provided Osteoporosis with pseudoglioma 2015-10-02 no assertion provided clinical testing
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000086953 SCV000119205 not provided not provided no assertion provided not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000250939 SCV001799481 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000086953 SCV001808065 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000250939 SCV001925022 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000250939 SCV001978019 benign not specified no assertion criteria provided clinical testing

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