ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.6697G>A (p.Val2233Ile) (rs150945378)

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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 RCV000723769 SCV000202940 uncertain significance not provided 2014-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000153439 SCV000513434 likely benign not specified 2017-06-22 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 RCV001080713 SCV001016504 likely benign Laminin alpha 2-related dystrophy 2020-11-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000723769 SCV001714797 uncertain significance not provided 2019-09-02 criteria provided, single submitter clinical testing

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