ClinVar Miner

Submissions for variant NM_016156.5(MTMR2):c.1164G>A (p.Trp388Ter) (rs1555060024)

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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 RCV000664231 SCV000787797 pathogenic Charcot-Marie-Tooth disease, type 4B1 2018-04-25 no assertion criteria provided clinical testing

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