Submissions for variant NM_002335.4(LRP5):c.1395A>C (p.Ala465=)

gnomAD frequency: 0.00022  dbSNP: rs200075657

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000597329	SCV000703167	likely benign	not specified	2016-11-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001523029	SCV001732677	benign	not provided	2025-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001523029	SCV001941660	likely benign	not provided	2021-01-22	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002483591	SCV002795048	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	2021-10-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000597329	SCV005076655	benign	not specified	2024-04-23	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001523029	SCV001923256	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001523029	SCV001968860	likely benign	not provided		no assertion criteria provided	clinical testing