ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.2430A>C (p.Pro810=) (rs147572139)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421905 SCV000528858 likely benign not specified 2017-03-21 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 RCV000421905 SCV000613963 benign not specified 2016-09-19 criteria provided, single submitter clinical testing
Invitae RCV000654778 SCV000776677 benign Laminin alpha 2-related dystrophy 2017-11-27 criteria provided, single submitter clinical testing

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