ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.753= (p.Leu251=)

gnomAD frequency: 0.02300  dbSNP: rs1752386
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000542556 SCV000649552 benign MHC class II deficiency 2025-02-01 criteria provided, single submitter clinical testing

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