Submissions for variant NM_002335.4(LRP5):c.266A>G (p.Gln89Arg)

gnomAD frequency: 0.00826  dbSNP: rs41494349

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175719	SCV000227256	benign	not specified	2014-11-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000175719	SCV000308841	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001512959	SCV001720474	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001512959	SCV001847755	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31169861, 30513533, 28378289, 16115379, 21528003, 17955262, 22511589)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277365	SCV002564884	benign	Osteogenesis imperfecta	2022-07-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001512959	SCV005319214	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001512959	SCV001798543	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001512959	SCV001806876	likely benign	not provided		no assertion criteria provided	clinical testing