ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.4687T>C (p.Leu1563=) (rs563878786)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538975 SCV000657965 likely benign Charcot-Marie-Tooth disease type 4 2017-04-20 criteria provided, single submitter clinical testing

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