Submissions for variant NM_002335.4(LRP5):c.4788C>T (p.Thr1596=)

gnomAD frequency: 0.01233  dbSNP: rs113442867

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244093	SCV000308848	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000712235	SCV000513509	benign	not provided	2019-04-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15981244, 12579474, 16234968, 18721193)
Athena Diagnostics	RCV000712235	SCV000842679	benign	not provided	2018-03-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000712235	SCV001725639	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278175	SCV002564921	benign	Osteogenesis imperfecta	2022-05-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000712235	SCV004564677	benign	not provided	2024-10-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000712235	SCV005319266	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000244093	SCV001809214	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000712235	SCV001970806	likely benign	not provided		no assertion criteria provided	clinical testing