Submissions for variant NM_002335.4(LRP5):c.2193C>T (p.Asn731=)

gnomAD frequency: 0.00108  dbSNP: rs147388442

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173756	SCV000224904	benign	not specified	2015-04-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000954642	SCV001101287	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000173756	SCV001476669	benign	not specified	2019-10-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277339	SCV002564878	likely benign	Osteogenesis imperfecta	2019-12-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500460	SCV002806585	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	2021-08-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000954642	SCV004137096	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	LRP5: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV000954642	SCV005218844	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000173756	SCV001978872	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000954642	SCV001980614	likely benign	not provided		no assertion criteria provided	clinical testing