ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.289del (p.Tyr97fs)

dbSNP: rs1597607713
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Inherited Neuropathy Consortium RCV000790178 SCV000929569 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
GeneReviews RCV001838640 SCV002098446 not provided Hereditary liability to pressure palsies no assertion provided literature only Associated with painful neuropathy without recurrent nerve palsies in one family [Yurrebaso et al 2014]

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