ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.2115T>G (p.Leu705=) (rs149753273)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723694 SCV000110615 uncertain significance not provided 2013-06-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290735 SCV000460012 uncertain significance Congenital Muscular Dystrophy, LAMA2-related 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000078755 SCV000527742 likely benign not specified 2017-05-25 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.
Genetic Services Laboratory, University of Chicago RCV000078755 SCV000595501 likely benign not specified 2016-10-05 criteria provided, single submitter clinical testing
Invitae RCV000654774 SCV000776673 benign Laminin alpha 2-related dystrophy 2017-12-04 criteria provided, single submitter clinical testing

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