Submissions for variant NM_002335.4(LRP5):c.4431C>T (p.His1477=)

gnomAD frequency: 0.00238  dbSNP: rs11574426

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000607241	SCV000725650	likely benign	not specified	2017-12-04	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000963945	SCV001111122	benign	not provided	2025-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279423	SCV002564912	likely benign	Osteogenesis imperfecta	2021-12-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002491274	SCV002798390	likely 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	2021-08-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000963945	SCV004137107	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	LRP5: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000607241	SCV001806813	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000607241	SCV001921946	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000963945	SCV001954557	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000963945	SCV001967041	likely benign	not provided		no assertion criteria provided	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000607241	SCV003839683	likely benign	not specified	2022-12-20	no assertion criteria provided	clinical testing