ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.280-5T>C

gnomAD frequency: 0.00009  dbSNP: rs368118378
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000654287 SCV000776177 likely benign Charcot-Marie-Tooth disease type 4 2024-01-08 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173793 SCV001336907 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV002440382 SCV002748103 uncertain significance Inborn genetic diseases 2023-11-02 criteria provided, single submitter clinical testing The c.280-5T>C intronic alteration consists of a T to C substitution 5 nucleotides before coding exon 4 in the SBF2 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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