ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.3586C>T (p.Arg1196Ter) (rs120074138)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000003045 SCV000023203 pathogenic Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma 2003-05-01 no assertion criteria provided literature only

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