ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.1856G>A (p.Arg619His) (rs3816665)

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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 RCV000078752 SCV000110612 benign not specified 2016-01-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078752 SCV000151645 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078752 SCV000304127 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285061 SCV000460009 benign Congenital Muscular Dystrophy, LAMA2-related 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000078752 SCV000513433 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 RCV000576727 SCV000677334 benign Merosin deficient congenital muscular dystrophy 2017-04-13 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000576727 SCV000734464 benign Merosin deficient congenital muscular dystrophy no assertion criteria provided clinical testing

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