ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter) (rs120074139)

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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 RCV000790190 SCV000929582 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
OMIM RCV000003046 SCV000023204 pathogenic Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma 2004-08-10 no assertion criteria provided literature only

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