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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