Submissions for variant NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del)

dbSNP: rs72555376

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000186572	SCV000240116	likely benign	not specified	2017-11-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000827981	SCV000969655	benign	not provided	2019-10-08	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21151595, 12579474, 16234968, 19177549)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000827981	SCV001727988	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277444	SCV002564683	likely benign	Increased bone mineral density	2022-03-21	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277443	SCV002564923	likely benign	Osteogenesis imperfecta	2022-03-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000827981	SCV004137088	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	LRP5: BS1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000827981	SCV001808756	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center	RCV001844819	SCV001877029	uncertain significance	Autosomal dominant polycystic liver disease	2021-09-01	no assertion criteria provided	research
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000827981	SCV001931569	likely benign	not provided		no assertion criteria provided	clinical testing