ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.79-2A>G (rs1597633171)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV001288684 SCV001475979 pathogenic not provided 2019-10-30 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.
Inherited Neuropathy Consortium RCV000789512 SCV000928868 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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