ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) (rs41289902)

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Total submissions: 10
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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, Partners HealthCare 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/).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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 RCV000857964 SCV000287331 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics 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
DNA and Cytogenetics Diagnostics Unit,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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000226356 SCV000734435 likely benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing

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