ClinVar Miner

Submissions for variant NM_018723.4(RBFOX1):c.201T>A (p.Pro67=)

dbSNP: rs757485949
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001498321 SCV001703070 likely benign Idiopathic generalized epilepsy 2020-10-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955648 SCV004769848 likely benign RBFOX1-related disorder 2019-07-16 no assertion criteria provided 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).

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