ClinVar Miner

Submissions for variant NM_016156.5(MTMR2):c.1768C>T (p.Gln590Ter) (rs1565342506)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000761540 SCV000891685 pathogenic Charcot-Marie-Tooth disease, type 4B1 2017-12-30 criteria provided, single submitter clinical testing

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