ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.4111G>C (p.Val1371Leu) (rs149501654)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000863552 SCV001004238 benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173814 SCV001336928 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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