ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.662G>T (p.Arg221Leu) (rs782057378)

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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 RCV000725045 SCV000333496 uncertain significance not provided 2015-07-28 criteria provided, single submitter clinical testing
GeneDx RCV000331953 SCV000723611 likely benign not specified 2017-10-13 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 RCV000725045 SCV001008006 likely benign not provided 2018-10-18 criteria provided, single submitter clinical testing
Invitae RCV001446491 SCV001649538 likely benign Emery-Dreifuss muscular dystrophy 1, X-linked 2020-08-25 criteria provided, single submitter clinical testing

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