ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.290-2A>T (rs587777715)

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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 RCV000789118 SCV000928469 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
OMIM RCV000144073 SCV000189145 pathogenic Charcot-Marie-Tooth disease, type 4J 2014-08-01 no assertion criteria provided literature only

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