Submissions for variant NM_002335.4(LRP5):c.1968C>T (p.His656=)

gnomAD frequency: 0.00194  dbSNP: rs144847027

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180584	SCV000233055	benign	not specified	2015-06-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000962196	SCV001109269	benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000962196	SCV001767722	likely benign	not provided	2021-01-22	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002503699	SCV002811355	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	2021-09-28	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000180584	SCV001924828	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000962196	SCV001971567	likely benign	not provided		no assertion criteria provided	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000180584	SCV003839678	likely benign	not specified	2022-08-29	no assertion criteria provided	clinical testing