ClinVar Miner

Submissions for variant NM_018723.4(RBFOX1):c.360T>C (p.His120=)

gnomAD frequency: 0.00001  dbSNP: rs767190235
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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 RCV002165371 SCV002339152 likely benign Idiopathic generalized epilepsy 2021-04-03 criteria provided, single submitter clinical testing

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