ClinVar Miner

Submissions for variant NM_018723.4(RBFOX1):c.717C>T (p.Ser239=)

gnomAD frequency: 0.00001  dbSNP: rs201549920
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001413049 SCV001615152 likely benign Idiopathic generalized epilepsy 2021-04-02 criteria provided, single submitter clinical testing

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