ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.1634T>A (p.Leu545Gln) (rs118083923)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000428463 SCV000842611 likely benign not provided 2017-11-20 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000428463 SCV000510951 benign not provided 2017-01-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078749 SCV000110609 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000078749 SCV000196841 benign not specified 2018-02-16 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.
Invitae RCV000540705 SCV000658632 likely benign Laminin alpha 2-related dystrophy 2018-01-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078749 SCV000304123 likely benign not specified criteria provided, single submitter clinical testing

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