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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