ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*1295C>T (rs144183238)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001007467 SCV001167082 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 4F criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789544 SCV000928900 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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