ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.8755C>T (p.Pro2919Ser) (rs143026295)

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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 RCV000153442 SCV000202943 benign not specified 2014-04-09 criteria provided, single submitter clinical testing
GeneDx RCV000153442 SCV000531048 likely benign not specified 2016-08-26 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 RCV000153442 SCV000595519 benign not specified 2015-11-11 criteria provided, single submitter clinical testing
Invitae RCV000654768 SCV000776667 likely benign Laminin alpha 2-related dystrophy 2017-11-27 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000603493 SCV000734474 likely benign Merosin deficient congenital muscular dystrophy no assertion criteria provided clinical testing

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