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
Clinical Genetics laboratory, 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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