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

gnomAD frequency: 0.03472  dbSNP: rs4988321

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	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	RCV000086953	SCV001144464	benign	not provided	2018-12-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000086953	SCV001731472	benign	not provided	2025-02-03	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
Fulgent Genetics, Fulgent Genetics	RCV002496286	SCV002809051	benign	Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts	2022-05-06	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004814844	SCV005070479	uncertain significance	Retinal dystrophy	2014-01-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000086953	SCV005218822	likely benign	not provided		criteria provided, single submitter	not provided
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