ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1314G>A (p.Gly438=) (rs774817302)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726528 SCV000345256 uncertain significance not provided 2017-11-17 criteria provided, single submitter clinical testing
Invitae RCV001083806 SCV000559833 likely benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000373943 SCV000714396 likely benign not specified 2017-01-23 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172637 SCV001335700 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Color RCV001177599 SCV001341836 likely benign Cardiomyopathy 2018-11-27 criteria provided, single submitter clinical testing

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