ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.256C>T (p.Gln86Ter) (rs11545341)

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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 RCV000992663 SCV001145110 pathogenic not provided 2018-12-31 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
Inherited Neuropathy Consortium RCV000789532 SCV000928888 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only

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