ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.1601-20T>C

gnomAD frequency: 0.00004  dbSNP: rs200518136
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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 RCV001173987 SCV001337107 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068106 SCV002468874 benign Charcot-Marie-Tooth disease type 4 2025-01-19 criteria provided, single submitter clinical testing

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