ClinVar Miner

Submissions for variant NM_018723.4(RBFOX1):c.137C>A (p.Pro46His)

gnomAD frequency: 0.00341  dbSNP: rs113298071
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 RCV000468947 SCV000561087 benign Idiopathic generalized epilepsy 2024-01-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715236 SCV005296536 benign not provided criteria provided, single submitter not provided

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