ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.1179G>A (p.Met393Ile) (rs12069578)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174373 SCV000225662 likely benign not specified 2015-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000174373 SCV000251717 likely benign not specified 2017-12-01 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.
PreventionGenetics,PreventionGenetics RCV000174373 SCV000312235 benign not specified 2016-01-21 criteria provided, single submitter clinical testing
Invitae RCV001084819 SCV000657711 benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711269 SCV000841604 benign not provided 2018-05-04 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173689 SCV001336797 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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