ClinVar Miner

Submissions for variant NM_018723.4(RBFOX1):c.354G>A (p.Arg118=)

gnomAD frequency: 0.00004  dbSNP: rs200053144
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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 RCV000634995 SCV000756373 benign Idiopathic generalized epilepsy 2022-07-11 criteria provided, single submitter clinical testing

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