Submissions for variant NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=)

gnomAD frequency: 0.00027  dbSNP: rs147894075

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000477345	SCV001159729	likely benign	Dilated cardiomyopathy 1JJ	2019-02-23	criteria provided, single submitter	clinical testing
Invitae	RCV000477345	SCV001730612	benign	Dilated cardiomyopathy 1JJ	2020-12-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002323776	SCV002606556	likely benign	Cardiovascular phenotype	2018-10-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001701012	SCV004223367	benign	not specified	2023-11-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925338	SCV004744162	likely benign	LAMA4-related condition	2019-10-28	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000477345	SCV000734452	likely benign	Dilated cardiomyopathy 1JJ		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701012	SCV001919729	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000858998	SCV001929041	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000858998	SCV001956983	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000858998	SCV001970429	likely benign	not provided		no assertion criteria provided	clinical testing