Submissions for variant NM_002335.4(LRP5):c.3564G>A (p.Arg1188=)

gnomAD frequency: 0.00762  dbSNP: rs117289001

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000950206	SCV001096494	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000950206	SCV001758397	benign	not provided	2018-11-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 18721193, 20045498)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279657	SCV002564896	benign	Osteogenesis imperfecta	2021-04-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000950206	SCV004137102	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	LRP5: BP4, BP7, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000950206	SCV004562975	benign	not provided	2023-10-06	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000950206	SCV005319248	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579488	SCV001807446	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000950206	SCV001973498	likely benign	not provided		no assertion criteria provided	clinical testing