ClinVar Miner

Submissions for variant NM_018723.4(RBFOX1):c.789C>T (p.Ala263=)

gnomAD frequency: 0.00004  dbSNP: rs577598050
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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 RCV001497527 SCV001702259 likely benign Idiopathic generalized epilepsy 2024-01-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956097 SCV004775315 likely benign RBFOX1-related disorder 2019-07-12 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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