ClinVar Miner

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

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Total submissions: 4
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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
GeneDx RCV001712711 SCV001944415 benign not provided 2015-03-03 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
Clinical Genetics,Academic Medical Center RCV001701060 SCV001925292 benign not specified no assertion criteria provided clinical testing

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