ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.678C>T (p.Val226=)

gnomAD frequency: 0.00005  dbSNP: rs559709373
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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 RCV000933339 SCV001079036 likely benign MHC class II deficiency 2023-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925808 SCV004742494 likely benign RFX5-related disorder 2019-09-13 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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