ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.1988C>T (p.Thr663Met) (rs397515456)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
OMIM	RCV000054547	SCV000083025	pathogenic	Charcot-Marie-Tooth disease, recessive intermediate c	2013-07-12	no assertion criteria provided	literature only

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