ClinVar Miner

Submissions for variant NM_018723.4(RBFOX1):c.333A>G (p.Glu111=)

gnomAD frequency: 0.00959  dbSNP: rs140174146
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462654 SCV000561092 benign Idiopathic generalized epilepsy 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004999507 SCV000841031 benign not specified 2024-01-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000710733 SCV005296538 benign not provided criteria provided, single submitter not provided

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