Submissions for variant NM_002335.4(LRP5):c.4089C>T (p.Asp1363=)

gnomAD frequency: 0.00195  dbSNP: rs3736229

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175428	SCV000226905	likely benign	not specified	2014-10-20	criteria provided, single submitter	clinical testing
Invitae	RCV000905001	SCV001049559	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000905001	SCV001873674	likely benign	not provided	2021-08-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277358	SCV002564679	likely benign	Increased bone mineral density	2020-03-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277357	SCV002564906	likely benign	Osteogenesis imperfecta	2020-03-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000175428	SCV001808309	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000905001	SCV001921115	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000175428	SCV001955697	benign	not specified		no assertion criteria provided	clinical testing