ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.449G>T (p.Gly150Val) (rs879253954)

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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,University of Goettingen	RCV000499331	SCV000590822	pathogenic	Charcot-Marie-Tooth disease and deafness; Dejerine-Sottas disease		no assertion criteria provided	clinical testing

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