Submissions for variant NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys)

gnomAD frequency: 0.00135  dbSNP: rs138153075

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172551	SCV000051393	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037337	SCV000060994	likely benign	not specified	2015-04-18	criteria provided, single submitter	clinical testing	p.Arg538Cys in exon 13 of LAMA4: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (19/6614) of Finnish chromoso mes and 0.2% (153/66734) of European chromosomes by the Exome Aggregation Consor tium (ExAC, http://exac.broadinstitute.org; dbSNP rs138153075).
GeneDx	RCV000172551	SCV000250553	likely benign	not provided	2021-02-16	criteria provided, single submitter	clinical testing
Invitae	RCV000206650	SCV000262235	likely benign	Dilated cardiomyopathy 1JJ	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620865	SCV000737176	benign	Cardiovascular phenotype	2020-12-24	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770220	SCV000901650	likely benign	Cardiomyopathy	2016-11-23	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000853004	SCV000995759	likely benign	Hypertrophic cardiomyopathy; Ventricular tachycardia	2019-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000206650	SCV001157646	likely benign	Dilated cardiomyopathy 1JJ	2023-08-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000172551	SCV004160013	benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	LAMA4: BP4, BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000037337	SCV004223366	likely benign	not specified	2023-11-06	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000206650	SCV000734449	likely benign	Dilated cardiomyopathy 1JJ		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000172551	SCV001798872	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037337	SCV001920204	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000172551	SCV001930111	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037337	SCV001954225	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000172551	SCV001972648	likely benign	not provided		no assertion criteria provided	clinical testing