ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.753-16T>A (rs7128234)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172812 SCV001335881 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000607384 SCV000732986 benign Charcot-Marie-Tooth disease, type 4B2 no assertion criteria provided clinical testing

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