ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.5466A>G (p.Glu1822=) (rs3749877)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078777 SCV000110637 benign not specified 2012-07-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078777 SCV000151656 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078777 SCV000304163 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387332 SCV000460048 benign Congenital Muscular Dystrophy, LAMA2-related 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000078777 SCV000518402 benign not specified 2016-01-05 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.
Athena Diagnostics Inc RCV000576351 SCV000677338 benign Merosin deficient congenital muscular dystrophy 2017-04-13 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000576351 SCV000734469 benign Merosin deficient congenital muscular dystrophy no assertion criteria provided clinical testing

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