ClinVar Miner

Submissions for variant NM_018723.4(RBFOX1):c.1057G>A (p.Gly353Ser)

gnomAD frequency: 0.00156  dbSNP: rs145873257
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080369 SCV000632064 likely benign Idiopathic generalized epilepsy 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710729 SCV000841027 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915357 SCV004731552 likely benign RBFOX1-related condition 2022-07-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000656041 SCV000588317 pathogenic Childhood epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

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