ClinVar Miner

Submissions for variant NM_016156.5(MTMR2):c.1805C>G (p.Ala602Gly) (rs76784113)

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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 RCV000470802 SCV000374985 likely benign Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000470802 SCV000557437 benign Charcot-Marie-Tooth disease type 4 2017-12-14 criteria provided, single submitter clinical testing
GeneDx RCV000608107 SCV000729058 benign not specified 2017-02-08 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.
Inherited Neuropathy Consortium RCV000790126 SCV000929517 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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