ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.6274+4C>T (rs73775410)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000274351 SCV000460063 likely benign Congenital Muscular Dystrophy, LAMA2-related 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000444635 SCV000524761 benign not specified 2016-03-21 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.
Invitae RCV000542115 SCV000658738 benign Laminin alpha 2-related dystrophy 2017-12-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712192 SCV000842625 benign not provided 2017-11-20 criteria provided, single submitter clinical testing

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