Submissions for variant NM_002335.4(LRP5):c.2220C>T (p.Asn740=)

gnomAD frequency: 0.11683  dbSNP: rs2306862

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173754	SCV000224902	benign	not specified	2014-10-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000173754	SCV000308839	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000712233	SCV000842677	benign	not provided	2018-05-24	criteria provided, single submitter	clinical testing
Invitae	RCV000712233	SCV001729686	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000712233	SCV001903464	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22511589, 17505772, 16115379)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277338	SCV002564675	benign	Increased bone mineral density	2022-03-19	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277337	SCV002564879	benign	Osteogenesis imperfecta	2022-07-18	criteria provided, single submitter	clinical testing
OMIM	RCV000006666	SCV000026849	affects	Bone mineral density quantitative trait locus 1	2004-01-01	no assertion criteria provided	literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000173754	SCV001807539	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000173754	SCV001957602	benign	not specified		no assertion criteria provided	clinical testing