ClinVar Miner

Submissions for variant NM_030973.3(MED25):c.664C>T (p.Leu222=) (rs147538736)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199999 SCV000253615 likely benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000422987 SCV000518868 likely benign not specified 2015-11-18 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 RCV001172681 SCV001335745 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285290 SCV001471697 likely benign Basel-Vanagaite-Smirin-Yosef syndrome 2020-02-10 criteria provided, single submitter clinical testing

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