ClinVar Miner

Submissions for variant NM_016156.5(MTMR2):c.184_186del (p.Arg62del) (rs141498429)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000458824 SCV000375001 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000458824 SCV000557438 likely benign Charcot-Marie-Tooth disease type 4 2019-11-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506336 SCV000604294 likely benign not specified 2016-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000506336 SCV000714853 likely benign not specified 2017-12-04 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.

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