ClinVar Miner

Submissions for variant NM_001350451.2(RBFOX3):c.622+6A>G

gnomAD frequency: 0.42513  dbSNP: rs58352742
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520120 SCV001729142 benign Idiopathic generalized epilepsy 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001673100 SCV001890264 benign not provided 2021-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001673100 SCV005255674 benign not provided criteria provided, single submitter not provided

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