Submissions for variant NM_002335.4(LRP5):c.2763C>T (p.Pro921=)

gnomAD frequency: 0.00039  dbSNP: rs147158768

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001433195	SCV001635984	likely benign	not provided	2025-01-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002501531	SCV002805274	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	2022-04-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001433195	SCV004137100	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	LRP5: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001433195	SCV001809523	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001433195	SCV001920623	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001433195	SCV001964902	likely benign	not provided		no assertion criteria provided	clinical testing