ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.3412G>A (p.Val1138Met) (rs2306942)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078762 SCV000110622 benign not specified 2016-01-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078762 SCV000151651 benign not specified 2013-09-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078762 SCV000304145 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327660 SCV000460027 likely benign Congenital Muscular Dystrophy, LAMA2-related 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000078762 SCV000519477 benign not specified 2016-01-19 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.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000614705 SCV000734467 benign Merosin deficient congenital muscular dystrophy no assertion criteria provided clinical testing

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