ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.5247C>T (p.Ala1749=) (rs149951387)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153436 SCV000202937 benign not specified 2013-12-13 criteria provided, single submitter clinical testing
GeneDx RCV000153436 SCV000528859 likely benign not specified 2016-07-07 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 RCV001080701 SCV000658708 benign Laminin alpha 2-related dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000560236 SCV001144409 benign not provided 2019-02-14 criteria provided, single submitter clinical testing

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