ClinVar Miner

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

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Total submissions: 2
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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 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173982 SCV001337102 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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