Submissions for variant NM_002335.4(LRP5):c.3723A>G (p.Pro1241=)

gnomAD frequency: 0.00100  dbSNP: rs139554243

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000733354	SCV000861410	likely benign	not specified	2018-06-01	criteria provided, single submitter	clinical testing
Invitae	RCV000896788	SCV001040897	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279507	SCV002564897	likely benign	Osteogenesis imperfecta	2022-02-23	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002493354	SCV002801668	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	2021-11-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000896788	SCV004137103	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	LRP5: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000896788	SCV001807492	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000733354	SCV001924966	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000896788	SCV001965938	likely benign	not provided		no assertion criteria provided	clinical testing