ClinVar Miner

Submissions for variant NM_018723.4(RBFOX1):c.677-5C>T

gnomAD frequency: 0.00074  dbSNP: rs147023054
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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 RCV000473773 SCV000561088 likely benign Idiopathic generalized epilepsy 2024-10-22 criteria provided, single submitter clinical testing
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000656039 SCV000588315 pathogenic Self-limited epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

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