ClinVar Miner

Submissions for variant PMP22, 1.4-MB DUP

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000008938 SCV000029148 pathogenic Charcot-Marie-Tooth disease, type IA 2009-09-01 no assertion criteria provided literature only
OMIM RCV000008939 SCV000053460 pathogenic Roussy-Lévy syndrome 2009-09-01 no assertion criteria provided literature only
GeneReviews RCV000008938 SCV000055639 pathologic Charcot-Marie-Tooth disease, type IA 2012-10-18 no assertion criteria provided curation Converted during submission to Pathogenic.

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