ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.473+20T>C

gnomAD frequency: 0.00005  dbSNP: rs752921480
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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 RCV002192638 SCV002352963 likely benign MHC class II deficiency 2023-02-17 criteria provided, single submitter clinical testing

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