ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.1641C>T (p.Leu547=) (rs140924661)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126753 SCV000170266 benign not specified 2014-04-16 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 RCV001079621 SCV000252829 benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000584855 SCV000334704 uncertain significance not provided 2015-09-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000584855 SCV000692605 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172691 SCV001335757 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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