ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.2459+7T>G (rs575271308)

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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 RCV000654260 SCV000613299 likely benign not provided 2019-04-26 criteria provided, single submitter clinical testing
GeneDx RCV000517448 SCV000716088 likely benign not specified 2017-02-24 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 RCV001078982 SCV000776150 likely benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173275 SCV001336358 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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