ClinVar Miner

Submissions for variant NM_018723.4(RBFOX1):c.96C>G (p.Pro32=)

gnomAD frequency: 0.00052  dbSNP: rs143695164
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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 RCV001084850 SCV000561093 benign Idiopathic generalized epilepsy 2023-10-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710730 SCV000841028 likely benign not provided 2018-03-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000710730 SCV005330200 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing RBFOX1: BP4, BP7, BS1

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