ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.537G>A (p.Leu179=) (rs368661339)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516427 SCV000613255 likely benign not specified 2017-03-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726975 SCV000704601 uncertain significance not provided 2017-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000726975 SCV000972837 likely benign not provided 2018-06-14 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 RCV001081000 SCV001004361 likely benign Emery-Dreifuss muscular dystrophy 1, X-linked 2020-12-06 criteria provided, single submitter clinical testing

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