Submissions for variant NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln)

gnomAD frequency: 0.01045  dbSNP: rs41289902

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000037362	SCV000051551	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037362	SCV000061019	benign	not specified	2012-01-31	criteria provided, single submitter	clinical testing	Arg1073Gln in exon 24 of LAMA4: This variant is classified as benign based on i ts high frequency in the general population (rs41289902; http://evs.gs.washingto n.edu/EVS/).
Eurofins Ntd Llc (ga)	RCV000037362	SCV000111895	benign	not specified	2013-06-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000037362	SCV000170031	benign	not specified	2014-02-06	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.
Invitae	RCV000226356	SCV000287331	benign	Dilated cardiomyopathy 1JJ	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000037362	SCV000308783	benign	not specified		criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000226356	SCV000743165	benign	Dilated cardiomyopathy 1JJ	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000226356	SCV000744214	benign	Dilated cardiomyopathy 1JJ	2015-09-21	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769195	SCV000900571	benign	Cardiomyopathy	2016-06-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000226356	SCV001157051	benign	Dilated cardiomyopathy 1JJ	2023-10-26	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000037362	SCV004029193	likely benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003430645	SCV004160010	benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	LAMA4: BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000226356	SCV000734435	likely benign	Dilated cardiomyopathy 1JJ		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037362	SCV001918160	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037362	SCV001958676	benign	not specified		no assertion criteria provided	clinical testing