ClinVar Miner

Submissions for variant NM_001350451.2(RBFOX3):c.66C>T (p.Tyr22=)

gnomAD frequency: 0.18638  dbSNP: rs80198744
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001514695 SCV001722601 benign Idiopathic generalized epilepsy 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710275 SCV005255677 benign not provided criteria provided, single submitter not provided

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