ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.154G>A (p.Glu52Lys) (rs1553141017)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Cologne University RCV000664230 SCV000787796 likely pathogenic Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 2018-04-25 no assertion criteria provided clinical testing

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