Submissions for variant NM_001105206.3(LAMA4):c.849= (p.Asp283=)

gnomAD frequency: 0.99999  dbSNP: rs9387061

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000154630	SCV000170055	benign	not specified	2013-11-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000617248	SCV000734976	benign	Cardiovascular phenotype	2015-03-11	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV002055657	SCV002335081	benign	Dilated cardiomyopathy 1JJ	2022-05-31	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154630	SCV000204304	not provided	not specified	2011-09-16	no assertion provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000154630	SCV001743266	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000154630	SCV001917391	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000154630	SCV001970935	benign	not specified		no assertion criteria provided	clinical testing