ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.179-2A>G

dbSNP: rs1597608225
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV000790154 SCV001337027 pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000790154 SCV000929545 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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