ClinVar Miner

Submissions for variant NM_181882.2(PRX):c.586C>T (p.Arg196Ter) (rs104894706)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Inherited Neuropathy Consortium RCV000789537 SCV000928893 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
OMIM RCV000005057 SCV000025233 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 4F 2001-02-15 no assertion criteria provided literature only

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