ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023074 SCV000044365 pathogenic Charcot-Marie-Tooth disease, type IA 2009-03-01 no assertion criteria provided literature only
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
Genesis Genome Database RCV000790158 SCV000999589 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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