ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys) (rs138153075)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
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, Partners HealthCare 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 RCV000037337 SCV000250553 likely benign not specified 2018-02-12 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 RCV000172551 SCV000262235 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620865 SCV000737176 likely benign Cardiovascular phenotype 2017-06-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Other data supporting benign classification
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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000206650 SCV000734449 likely benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.