ClinVar Miner

Submissions for variant NM_001350451.2(RBFOX3):c.10C>A (p.Pro4Thr)

gnomAD frequency: 0.00002  dbSNP: rs368372440
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520195 SCV001729252 benign Idiopathic generalized epilepsy 2023-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948545 SCV004760729 likely benign RBFOX3-related disorder 2019-12-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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