ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.-134G>A

gnomAD frequency: 0.00013  dbSNP: rs754758124
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002507360 SCV002814106 uncertain significance Guillain-Barre syndrome, familial; Hereditary liability to pressure palsies; Roussy-Lévy syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease 2021-12-14 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789596 SCV000928952 uncertain significance not specified no assertion criteria provided literature only

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