ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.3794-20C>T

gnomAD frequency: 0.02037  dbSNP: rs116966215
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001843 SCV001159539 benign Charcot-Marie-Tooth disease type 4B2 2024-10-25 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172816 SCV001335885 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001619878 SCV001844840 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068778 SCV002406698 benign Charcot-Marie-Tooth disease type 4 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001619878 SCV005324212 benign not provided criteria provided, single submitter not provided

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