ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.281del (p.Gly94fs) (rs80338763)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea RCV000755044 SCV000882762 pathogenic Charcot-Marie-Tooth disease and deafness 2019-02-11 no assertion criteria provided research
Inherited Neuropathy Consortium RCV000790158 SCV000929549 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
OMIM RCV000023074 SCV000044365 pathogenic Charcot-Marie-Tooth disease, type IA 2009-03-01 no assertion criteria provided literature only

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