ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.870C>T (p.Gly290=) (rs368302487)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443042 SCV000533583 likely benign not specified 2016-11-15 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.
Athena Diagnostics Inc RCV000711278 SCV000841614 likely benign not provided 2018-08-08 criteria provided, single submitter clinical testing
Invitae RCV001088752 SCV001007672 likely benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173005 SCV001336080 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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